Symbol:
CHRNA3
Name:
cholinergic receptor nicotinic alpha 3 subunit
RGD ID:
732613
HGNC Page
HGNC:1957
Description:
Enables acetylcholine receptor activity and acetylcholine-gated monoatomic cation-selective channel activity. Involved in several processes, including behavioral response to nicotine; signal transduction; and synaptic transmission involved in micturition. Located in several cellular components, including ciliary basal body; cytosol; and nuclear lumen. Part of acetylcholine-gated channel complex. Implicated in several diseases, including alcohol dependence; chronic obstructive pulmonary disease; cocaine dependence; lung cancer (multiple); and nicotine dependence. Biomarker of lung adenocarcinoma and lung small cell carcinoma.
Type:
protein-coding
RefSeq Status:
REVIEWED
Previously known as:
acetylcholine receptor, nicotinic, alpha 3 (neuronal); BAIPRCK; cholinergic receptor, nicotinic alpha 3; cholinergic receptor, nicotinic, alpha 3 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 3; LNCR2; MGC104879; NACHRA3; neuronal acetylcholine receptor subunit alpha-3; neuronal nicotinic acetylcholine receptor, alpha3 subunit; PAOD2
RGD Orthologs
Alliance Orthologs
More Info
more info ...
More Info
Species
Gene symbol and name
Data Source
Assertion derived from
less info ...
Orthologs 1
Mus musculus (house mouse):
Chrna3 (cholinergic receptor, nicotinic, alpha polypeptide 3) HGNC
EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):
Chrna3 (cholinergic receptor nicotinic alpha 3 subunit) HGNC
EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):
Chrna3 (cholinergic receptor nicotinic alpha 3 subunit) NCBI
Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):
CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) NCBI
Ortholog
Canis lupus familiaris (dog):
CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) HGNC
EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):
Chrna3 (cholinergic receptor nicotinic alpha 3 subunit) NCBI
Ortholog
Sus scrofa (pig):
CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) HGNC
EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):
CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) NCBI
Ortholog
Heterocephalus glaber (naked mole-rat):
Chrna3 (cholinergic receptor nicotinic alpha 3 subunit) NCBI
Ortholog
Other homologs 2
Mus musculus (house mouse):
Chrna6 (cholinergic receptor, nicotinic, alpha polypeptide 6) HGNC
OrthoMCL
Alliance orthologs 3
Rattus norvegicus (Norway rat):
Chrna3 (cholinergic receptor nicotinic alpha 3 subunit)
Alliance
DIOPT (Ensembl Compara|HGNC|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Mus musculus (house mouse):
Chrna3 (cholinergic receptor, nicotinic, alpha polypeptide 3)
Alliance
DIOPT (Ensembl Compara|HGNC|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Danio rerio (zebrafish):
chrna3 (cholinergic receptor, nicotinic, alpha 3)
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid|ZFIN)
Caenorhabditis elegans (roundworm):
acr-12
Alliance
DIOPT (OrthoFinder|PANTHER|PhylomeDB)
Caenorhabditis elegans (roundworm):
acr-2
Alliance
DIOPT (OrthoFinder|PANTHER|PhylomeDB)
Caenorhabditis elegans (roundworm):
acr-6
Alliance
DIOPT (OrthoFinder|PANTHER|PhylomeDB)
Caenorhabditis elegans (roundworm):
acr-8
Alliance
DIOPT (Ensembl Compara|OrthoFinder|PANTHER|PhylomeDB)
Drosophila melanogaster (fruit fly):
nAChRalpha2
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Drosophila melanogaster (fruit fly):
nAChRbeta2
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Drosophila melanogaster (fruit fly):
nAChRalpha3
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Drosophila melanogaster (fruit fly):
nAChRalpha4
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Caenorhabditis elegans (roundworm):
unc-38
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Caenorhabditis elegans (roundworm):
unc-63
Alliance
DIOPT (Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Caenorhabditis elegans (roundworm):
lev-1
Alliance
DIOPT (OrthoFinder|PANTHER|PhylomeDB)
Allele / Splice:
See ClinVar data
Latest Assembly:
GRCh38 - Human Genome Assembly GRCh38
Position:
Human Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCh38 15 78,593,052 - 78,620,996 (-) NCBI GRCh38 GRCh38 hg38 GRCh38 GRCh38.p14 Ensembl 15 78,593,052 - 78,621,295 (-) Ensembl GRCh38 hg38 GRCh38 GRCh37 15 78,885,394 - 78,913,338 (-) NCBI GRCh37 GRCh37 hg19 GRCh37 Build 36 15 76,674,706 - 76,700,377 (-) NCBI NCBI36 Build 36 hg18 NCBI36 Build 34 15 76,674,706 - 76,700,377 NCBI Celera 15 55,821,707 - 55,849,902 (-) NCBI Celera Cytogenetic Map 15 q25.1 NCBI HuRef 15 55,642,483 - 55,671,504 (-) NCBI HuRef CHM1_1 15 79,003,962 - 79,032,196 (-) NCBI CHM1_1 T2T-CHM13v2.0 15 76,455,721 - 76,484,482 (-) NCBI T2T-CHM13v2.0
JBrowse:
View Region in Genome Browser (JBrowse)
Model
CHRNA3 Human amyotrophic lateral sclerosis IAGP RGD:28876815|RGD:28876819|RGD:28876823|RGD:28876826|RGD:28876831 8554872 ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 CHRNA3 Human BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT IAGP RGD:156098646 8554872 ClinVar Annotator: match by term: CHRNA3-related condition ClinVar PMID:28492532 CHRNA3 Human BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT IAGP RGD:150413707|RGD:150413708|RGD:150413972|RGD:150413975|RGD:15123403|RGD:15123409|RGD:15140320|RGD:156028490|RGD:156349710|RGD:156390340|RGD:405250682 8554872 ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar PMID:25741868|PMID:28492532 CHRNA3 Human BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT IAGP RGD:12899488|RGD:150330597|RGD:150413978|RGD:155795074|RGD:155960859|RGD:156048070|RGD:156101379|RGD:156253143|RGD:21069309|RGD:401894655|RGD:597628383|RGD:597632662|RGD:597632668|RGD:597632673|RGD:597632677|RGD:597632686|RGD:597632690|RGD:597632694|RGD:597632699|RGD:597632703|RGD:597632706|RGD:597632711|RGD:597632716|RGD:597632719|RGD:597632724|RGD:597632728|RGD:597632732|RGD:597632736|RGD:597632740|RGD:597730963|RGD:597730974|RGD:597730986|RGD:597730998|RGD:597731010|RGD:597731020|RGD:597731030|RGD:597731042|RGD:597731054|RGD:597731065|RGD:597731076|RGD:597731088|RGD:597731099|RGD:597731111|RGD:597731124|RGD:597731135|RGD:597731147|RGD:597731156|RGD:597731166|RGD:597731179|RGD:597731190|RGD:597731200|RGD:597731223|RGD:597731234|RGD:597731246|RGD:597731256|RGD:597731266|RGD:597731276|RGD:597731287|RGD:597731299|RGD:597731310|RGD:597731322 8554872 ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar PMID:25741868 CHRNA3 Human BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT IAGP RGD:21069919|RGD:21069921 8554872 ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar PMID:31708116 CHRNA3 Human Bloom syndrome IAGP RGD:126736038 8554872 ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 CHRNA3 Human colorectal cancer IAGP RGD:126736038 8554872 ClinVar Annotator: match by term: Familial colorectal cancer ClinVar PMID:28492532 CHRNA3 Human genetic disease IAGP RGD:155960859|RGD:156048070|RGD:156101379|RGD:156253143|RGD:401894655|RGD:597628383 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar PMID:25741868 CHRNA3 Human genetic disease IAGP RGD:156390340 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar PMID:25741868|PMID:28492532 CHRNA3 Human genetic disease IAGP RGD:155985424|RGD:156005860|RGD:156084667|RGD:156105915|RGD:329388784|RGD:401748461|RGD:405672021|RGD:405672026|RGD:405672030|RGD:407455848|RGD:407455851|RGD:597632087|RGD:597646438|RGD:597646443|RGD:597646449|RGD:597646459|RGD:597646463|RGD:597646470|RGD:597646474|RGD:597646479 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar CHRNA3 Human lung adenocarcinoma IAGP RGD:243055982 8554872 ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 CHRNA3 Human lung cancer IAGP RGD:8600600 8554872 ClinVar Annotator: match by term: Lung cancer susceptibility 2 ClinVar PMID:18385676|PMID:18385738|PMID:18385739|PMID:28492532 CHRNA3 Human squamous cell carcinoma IAGP RGD:243053494|RGD:243055983 8554872 ClinVar Annotator: match by term: Squamous cell carcinoma ClinVar PMID:27993330
Only show annotations with direct experimental evidence (0 objects hidden)
CHRNA3 Human (S)-anabasine multiple interactions ISO RGD:2345 6480464 Anabasine analog binds to and results in increased activity of [CHRNA3 protein binds to CHRNB4 more ... CTD PMID:15615518 CHRNA3 Human (S)-nicotine multiple interactions EXP 6480464 CHRNA3 protein affects the reaction [Nicotine results in increased expression of CHRNA5 mRNA]; CHRNA3 protein more ... CTD PMID:18450646|PMID:34628512|PMID:9454827 CHRNA3 Human (S)-nicotine affects response to substance ISO RGD:732614 6480464 CHRNA3 protein affects the susceptibility to Nicotine CTD PMID:15275829 CHRNA3 Human (S)-nicotine increases expression ISO RGD:732614 6480464 Nicotine results in increased expression of CHRNA3 mRNA CTD PMID:17135361|PMID:29293602 CHRNA3 Human (S)-nicotine increases activity ISO RGD:2345 6480464 Nicotine results in increased activity of CHRNA3 protein CTD PMID:19483072 CHRNA3 Human (S)-nicotine decreases expression EXP 6480464 Nicotine results in decreased expression of CHRNA3 mRNA CTD PMID:12628473 CHRNA3 Human (S)-nicotine multiple interactions ISO RGD:2345 6480464 Cocaine inhibits the reaction [Nicotine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:10336510|PMID:11600638|PMID:15615518 CHRNA3 Human 1,1-dimethyl-4-phenylpiperazinium iodide multiple interactions EXP 6480464 Dimethylphenylpiperazinium Iodide results in increased activity of [CHRNB4 protein binds to CHRNA3 protein] CTD PMID:9454827 CHRNA3 Human 1,1-dimethyl-4-phenylpiperazinium iodide multiple interactions ISO RGD:2345 2303194 1,1-dimethyl-4-phenylpiperazinium iodide affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human 1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene multiple interactions ISO RGD:732614 6480464 [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ... CTD PMID:25510870 CHRNA3 Human 1,2-dichloroethane decreases expression ISO RGD:732614 6480464 ethylene dichloride results in decreased expression of CHRNA3 mRNA CTD PMID:28960355 CHRNA3 Human 17alpha-ethynylestradiol multiple interactions EXP 6480464 Ethinyl Estradiol inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein binds to CHRNB4 more ... CTD PMID:11711029 CHRNA3 Human 17beta-estradiol multiple interactions EXP 6480464 Estradiol inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein binds to CHRNB4 protein]]; more ... CTD PMID:11711029 CHRNA3 Human 17beta-estradiol 3-benzoate increases expression ISO RGD:2345 6480464 estradiol 3-benzoate results in increased expression of CHRNA3 mRNA CTD PMID:32741896 CHRNA3 Human 2,2',4,4',5,5'-hexachlorobiphenyl multiple interactions ISO RGD:732614 6480464 [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ... CTD PMID:25510870 CHRNA3 Human 2,2',4,4'-Tetrabromodiphenyl ether multiple interactions EXP 6480464 [2,2',4,4'-tetrabromodiphenyl ether affects the methylation of CHRNA3 gene] which affects the expression of CHRNA3 mRNA CTD PMID:32653021 CHRNA3 Human 2,2',5,5'-tetrachlorobiphenyl multiple interactions ISO RGD:732614 6480464 [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ... CTD PMID:25510870 CHRNA3 Human 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732614 6480464 Tetrachlorodibenzodioxin results in increased expression of CHRNA3 mRNA CTD PMID:19465110 CHRNA3 Human 2,4,4'-trichlorobiphenyl multiple interactions ISO RGD:732614 6480464 [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ... CTD PMID:25510870 CHRNA3 Human 2,4-dibromophenyl 2,4,5-tribromophenyl ether increases expression EXP 6480464 2,2',4,4',5-brominated diphenyl ether results in increased expression of CHRNA3 mRNA CTD PMID:26705709 CHRNA3 Human 3,3',5,5'-tetrabromobisphenol A increases expression EXP 6480464 tetrabromobisphenol A results in increased expression of CHRNA3 mRNA CTD PMID:31326446 CHRNA3 Human 3H-1,2-dithiole-3-thione increases expression ISO RGD:2345 6480464 1,2-dithiol-3-thione results in increased expression of CHRNA3 mRNA CTD PMID:19162173 CHRNA3 Human 4-nonylphenol multiple interactions EXP 6480464 4-nonylphenol inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein binds to CHRNB4 protein]]; more ... CTD PMID:11711029 CHRNA3 Human 4-octylphenol multiple interactions EXP 6480464 4-octylphenol inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein binds to CHRNB4 protein]] CTD PMID:11711029 CHRNA3 Human acetylcholine multiple interactions ISO RGD:2345 6480464 [Mercuric Chloride co-treated with Acetylcholine] affects the activity of [CHRNA3 protein binds to CHRNB4 protein]; more ... CTD PMID:12130716|PMID:15885267|PMID:7808438 CHRNA3 Human acetylcholine multiple interactions ISO RGD:2345 2303194 Acetylcholine affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human acetylcholine multiple interactions EXP 6480464 4-nonylphenol inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein binds to CHRNB4 protein]]; more ... CTD PMID:11711029|PMID:15885267|PMID:16931985|PMID:34628512|PMID:9454827 CHRNA3 Human acrylamide increases expression EXP 6480464 Acrylamide results in increased expression of CHRNA3 mRNA CTD PMID:32763439 CHRNA3 Human aflatoxin B1 increases expression EXP 6480464 Aflatoxin B1 results in increased expression of CHRNA3 mRNA CTD PMID:22100608|PMID:32234424 CHRNA3 Human all-trans-retinoic acid increases expression ISO RGD:732614 6480464 Tretinoin results in increased expression of CHRNA3 mRNA; Tretinoin results in increased expression of CHRNA3 more ... CTD PMID:17203487 CHRNA3 Human all-trans-retinoic acid increases expression ISO RGD:2345 6480464 Tretinoin results in increased expression of CHRNA3 mRNA CTD PMID:20488242 CHRNA3 Human all-trans-retinoic acid increases expression EXP 6480464 Tretinoin results in increased expression of CHRNA3 mRNA CTD PMID:21934132 CHRNA3 Human all-trans-retinoic acid multiple interactions ISO RGD:732614 6480464 Tretinoin promotes the reaction [epibatidine binds to CHRNA3 protein] CTD PMID:17203487 CHRNA3 Human amitriptyline decreases expression ISO RGD:2345 6480464 Amitriptyline results in decreased expression of CHRNA3 mRNA CTD PMID:22341215 CHRNA3 Human ammonium chloride affects expression ISO RGD:2345 6480464 Ammonium Chloride affects the expression of CHRNA3 mRNA CTD PMID:16483693 CHRNA3 Human antirheumatic drug decreases expression EXP 6480464 Antirheumatic Agents results in decreased expression of CHRNA3 mRNA CTD PMID:24449571 CHRNA3 Human aristolochic acid A increases expression EXP 6480464 aristolochic acid I results in increased expression of CHRNA3 mRNA CTD PMID:33212167 CHRNA3 Human atracurium multiple interactions EXP 6480464 Atracurium inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:16931985 CHRNA3 Human belinostat increases expression EXP 6480464 belinostat results in increased expression of CHRNA3 mRNA CTD PMID:26272509 CHRNA3 Human belinostat multiple interactions EXP 6480464 [NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ... CTD PMID:27188386 CHRNA3 Human benzo[a]pyrene affects methylation EXP 6480464 Benzo(a)pyrene affects the methylation of CHRNA3 5' UTR; Benzo(a)pyrene affects the methylation of CHRNA3 promoter CTD PMID:27901495 CHRNA3 Human benzo[a]pyrene increases expression EXP 6480464 Benzo(a)pyrene results in increased expression of CHRNA3 mRNA CTD PMID:32234424 CHRNA3 Human bisphenol A multiple interactions EXP 6480464 bisphenol A inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein binds to CHRNB4 more ... CTD PMID:11711029 CHRNA3 Human bisphenol A decreases expression ISO RGD:2345 6480464 bisphenol A results in decreased expression of CHRNA3 mRNA CTD PMID:25181051|PMID:30816183|PMID:32528016|PMID:34947998 CHRNA3 Human butanal increases expression EXP 6480464 butyraldehyde results in increased expression of CHRNA3 mRNA CTD PMID:26079696 CHRNA3 Human Butylbenzyl phthalate decreases expression ISO RGD:732614 6480464 butylbenzyl phthalate results in decreased expression of CHRNA3 mRNA CTD PMID:36746855 CHRNA3 Human cadmium dichloride increases expression ISO RGD:2345 6480464 Cadmium Chloride results in increased expression of CHRNA3 mRNA CTD PMID:33453195 CHRNA3 Human carbachol affects binding ISO RGD:2345 6480464 Carbachol binds to [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:15615518 CHRNA3 Human carbachol multiple interactions ISO RGD:2345 2303194 Carbachol affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human carbamazepine affects expression EXP 6480464 Carbamazepine affects the expression of CHRNA3 mRNA CTD PMID:25979313 CHRNA3 Human carbaryl multiple interactions ISO RGD:2345 6480464 Carbaryl results in decreased activity of [CHRNA3 protein binds to CHRNB2 protein]; Carbaryl results in more ... CTD PMID:14644616 CHRNA3 Human cisatracurium multiple interactions EXP 6480464 cisatracurium inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:16931985 CHRNA3 Human cocaine multiple interactions ISO RGD:2345 6480464 Cocaine inhibits the reaction [Nicotine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:10336510 CHRNA3 Human cytisine multiple interactions ISO RGD:2345 2303195 cytisine affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human cytisine multiple interactions ISO RGD:2345 6480464 cytisine results in increased activity of [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:11600638 CHRNA3 Human cytisine multiple interactions EXP 6480464 cytisine results in increased activity of [CHRNB4 protein binds to CHRNA3 protein] CTD PMID:9454827 CHRNA3 Human DDE multiple interactions ISO RGD:2345 6480464 Dichlorodiphenyl Dichloroethylene inhibits the reaction [Dietary Fats results in increased expression of CHRNA3 mRNA] CTD PMID:28572628 CHRNA3 Human decabromodiphenyl ether increases expression EXP 6480464 decabromobiphenyl ether results in increased expression of CHRNA3 mRNA CTD PMID:31326446 CHRNA3 Human diazinon decreases expression ISO RGD:2345 6480464 Diazinon results in decreased expression of CHRNA3 mRNA CTD PMID:17452286|PMID:18812211 CHRNA3 Human dieldrin decreases expression ISO RGD:2345 6480464 Dieldrin results in decreased expression of CHRNA3 mRNA CTD PMID:18812211 CHRNA3 Human diethylstilbestrol multiple interactions EXP 6480464 Diethylstilbestrol inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein binds to CHRNB4 protein]]; more ... CTD PMID:11711029 CHRNA3 Human dihydro-beta-erythroidine multiple interactions ISO RGD:2345 2303195 dihydro-beta-erythroidine affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human dihydro-beta-erythroidine multiple interactions ISO RGD:2345 2303194 Dihydro-beta-erythroidine affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human dihydro-beta-erythroidine multiple interactions ISO RGD:2345 6480464 Dihydro-beta-Erythroidine results in decreased activity of [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:9687574 CHRNA3 Human dopamine increases secretion ISO RGD:2345 6480464 CHRNA3 protein results in increased secretion of Dopamine CTD PMID:15542623 CHRNA3 Human dorsomorphin multiple interactions EXP 6480464 [NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ... CTD PMID:27188386 CHRNA3 Human doxorubicin decreases expression EXP 6480464 Doxorubicin results in decreased expression of CHRNA3 mRNA CTD PMID:29803840 CHRNA3 Human entinostat multiple interactions EXP 6480464 [NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ... CTD PMID:27188386 CHRNA3 Human entinostat increases expression EXP 6480464 entinostat results in increased expression of CHRNA3 mRNA CTD PMID:26272509 CHRNA3 Human epibatidine affects binding ISO RGD:2345 2303194 Epibatidine binds to Chrna3 protein RGD CHRNA3 Human epibatidine multiple interactions ISO RGD:2345 6480464 epibatidine analog binds to and results in increased activity of [CHRNA3 protein binds to CHRNB4 more ... CTD PMID:15615518 CHRNA3 Human epibatidine affects binding ISO RGD:2345 6480464 [CHRNA3 protein binds to CHRNB4 protein] which binds to epibatidine; epibatidine binds to [CHRNA3 protein more ... CTD PMID:15615518|PMID:9687574 CHRNA3 Human epibatidine multiple interactions ISO RGD:732614 6480464 Tretinoin promotes the reaction [epibatidine binds to CHRNA3 protein] CTD PMID:17203487 CHRNA3 Human epibatidine affects binding ISO RGD:732614 6480464 epibatidine binds to CHRNA3 protein CTD PMID:17203487 CHRNA3 Human epibatidine multiple interactions EXP 6480464 2-(1'-methyl-2'-pyrrolidinyl)-7-hydroxy-1,4-benzodioxane inhibits the reaction [epibatidine binds to [CHRNA3 protein binds to CHRNB4 protein]]; epibatidine binds more ... CTD PMID:21942635|PMID:22060139 CHRNA3 Human epibatidine affects binding EXP 6480464 [CHRNB4 protein binds to CHRNA3 protein] which binds to epibatidine CTD PMID:9454827 CHRNA3 Human epibatidine affects binding ISO RGD:2345 2303195 Epibatidine binds to Chrna3 protein RGD CHRNA3 Human EPTC multiple interactions ISO RGD:2345 6480464 EPTC results in decreased activity of [CHRNA3 protein binds to CHRNB2 protein]; EPTC results in more ... CTD PMID:14644616 CHRNA3 Human ethanol decreases expression ISO RGD:732614 6480464 Ethanol results in decreased expression of CHRNA3 mRNA CTD PMID:29293602 CHRNA3 Human fenoxycarb multiple interactions ISO RGD:2345 6480464 fenoxycarb results in decreased activity of [CHRNA3 protein binds to CHRNB2 protein]; fenoxycarb results in more ... CTD PMID:14644616 CHRNA3 Human fenvalerate increases expression ISO RGD:2345 6480464 fenvalerate results in increased expression of CHRNA3 mRNA CTD PMID:30307764 CHRNA3 Human folic acid decreases expression ISO RGD:732614 6480464 Folic Acid results in decreased expression of CHRNA3 mRNA CTD PMID:25006883 CHRNA3 Human fonofos increases methylation EXP 6480464 Fonofos results in increased methylation of CHRNA3 promoter CTD PMID:22847954 CHRNA3 Human genistein decreases expression ISO RGD:732614 6480464 Genistein results in decreased expression of CHRNA3 mRNA CTD PMID:32186404 CHRNA3 Human glyphosate decreases expression ISO RGD:2345 6480464 Glyphosate results in decreased expression of CHRNA3 mRNA CTD PMID:38314887 CHRNA3 Human Hexamethonium multiple interactions ISO RGD:2345 6480464 Hexamethonium results in decreased activity of [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:9687574 CHRNA3 Human imidacloprid multiple interactions EXP 6480464 imidacloprid results in increased activity of [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:34628512 CHRNA3 Human Licochalcone B increases expression EXP 6480464 licochalcone B results in increased expression of CHRNA3 mRNA CTD PMID:33647349 CHRNA3 Human Mecamylamine multiple interactions ISO RGD:732614 6480464 Mecamylamine binds to and results in decreased activity of [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:20100906 CHRNA3 Human Mecamylamine multiple interactions ISO RGD:2345 6480464 Mecamylamine results in decreased activity of [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:11600638|PMID:9687574 CHRNA3 Human mercury dichloride multiple interactions ISO RGD:2345 6480464 [Mercuric Chloride co-treated with Acetylcholine] affects the activity of [CHRNA3 protein binds to CHRNB4 protein] CTD PMID:12130716 CHRNA3 Human methyllycaconitine multiple interactions ISO RGD:2345 2303194 methyllycaconitine affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human methyllycaconitine affects response to substance ISO RGD:732614 6480464 CHRNA3 protein affects the susceptibility to methyllycaconitine CTD PMID:19098233 CHRNA3 Human Mivacurium multiple interactions EXP 6480464 mivacurium inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:16931985 CHRNA3 Human N'-Nitrosonornicotine affects binding EXP 6480464 N'-nitrosonornicotine binds to CHRNA3 protein CTD PMID:16835749|PMID:18385738 CHRNA3 Human N-methyl-4-phenylpyridinium affects expression EXP 6480464 1-Methyl-4-phenylpyridinium affects the expression of CHRNA3 mRNA CTD PMID:12710931 CHRNA3 Human N-Nitrosopyrrolidine increases expression EXP 6480464 N-Nitrosopyrrolidine results in increased expression of CHRNA3 mRNA CTD PMID:32234424 CHRNA3 Human nickel atom decreases expression ISO RGD:2345 6480464 Nickel results in decreased expression of CHRNA3 mRNA CTD PMID:18812211 CHRNA3 Human nicotine increases expression ISO RGD:732614 6480464 Nicotine results in increased expression of CHRNA3 mRNA CTD PMID:17135361|PMID:29293602 CHRNA3 Human nicotine multiple interactions ISO RGD:2345 2303194 Nicotine affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human nicotine affects response to substance ISO RGD:732614 6480464 CHRNA3 protein affects the susceptibility to Nicotine CTD PMID:15275829 CHRNA3 Human nicotine increases activity ISO RGD:2345 6480464 Nicotine results in increased activity of CHRNA3 protein CTD PMID:19483072 CHRNA3 Human nicotine multiple interactions ISO RGD:2345 2303195 nicotine affects binding [Epibatidine binds to Chrna3 protein] RGD CHRNA3 Human nicotine multiple interactions ISO RGD:2345 6480464 Cocaine inhibits the reaction [Nicotine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:10336510|PMID:11600638|PMID:15615518 CHRNA3 Human nicotine decreases expression EXP 6480464 Nicotine results in decreased expression of CHRNA3 mRNA CTD PMID:12628473 CHRNA3 Human nicotine multiple interactions EXP 6480464 CHRNA3 protein affects the reaction [Nicotine results in increased expression of CHRNA5 mRNA]; CHRNA3 protein more ... CTD PMID:18450646|PMID:34628512|PMID:9454827 CHRNA3 Human okadaic acid increases expression EXP 6480464 Okadaic Acid results in increased expression of CHRNA3 mRNA CTD PMID:38832940 CHRNA3 Human pancuronium multiple interactions EXP 6480464 Pancuronium inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:16931985 CHRNA3 Human panobinostat multiple interactions EXP 6480464 [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ... CTD PMID:27188386 CHRNA3 Human parathion increases methylation EXP 6480464 Parathion results in increased methylation of CHRNA3 promoter CTD PMID:22847954 CHRNA3 Human PCB138 multiple interactions ISO RGD:732614 6480464 [2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ... CTD PMID:25510870 CHRNA3 Human pentanal increases expression EXP 6480464 pentanal results in increased expression of CHRNA3 mRNA CTD PMID:26079696 CHRNA3 Human phenylmercury acetate decreases expression EXP 6480464 Phenylmercuric Acetate results in decreased expression of CHRNA3 mRNA CTD PMID:26272509 CHRNA3 Human phenylmercury acetate multiple interactions EXP 6480464 [NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased more ... CTD PMID:27188386 CHRNA3 Human propanal increases expression EXP 6480464 propionaldehyde results in increased expression of CHRNA3 mRNA CTD PMID:26079696 CHRNA3 Human resveratrol multiple interactions EXP 6480464 [Plant Extracts co-treated with Resveratrol] results in decreased expression of CHRNA3 mRNA CTD PMID:23557933 CHRNA3 Human rocuronium multiple interactions EXP 6480464 rocuronium inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:16931985 CHRNA3 Human sarin decreases expression EXP 6480464 Sarin results in decreased expression of CHRNA3 mRNA CTD PMID:19522546 CHRNA3 Human SB 431542 multiple interactions EXP 6480464 [NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression more ... CTD PMID:27188386 CHRNA3 Human sunitinib decreases expression EXP 6480464 Sunitinib results in decreased expression of CHRNA3 mRNA CTD PMID:31533062 CHRNA3 Human tamoxifen multiple interactions EXP 6480464 4-nonylphenol promotes the reaction [Tamoxifen inhibits the reaction [Acetylcholine affects the activity of [CHRNA3 protein more ... CTD PMID:11711029 CHRNA3 Human terbufos increases methylation EXP 6480464 terbufos results in increased methylation of CHRNA3 promoter CTD PMID:22847954 CHRNA3 Human Tetrachlorobisphenol A increases expression EXP 6480464 tetrachlorodian results in increased expression of CHRNA3 mRNA CTD PMID:31326446 CHRNA3 Human tetrachloroethene multiple interactions ISO RGD:2345 6480464 Tetrachloroethylene inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:15885267 CHRNA3 Human tetrachloroethene multiple interactions EXP 6480464 Tetrachloroethylene inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:15885267 CHRNA3 Human thapsigargin decreases expression EXP 6480464 Thapsigargin results in decreased expression of CHRNA3 mRNA CTD PMID:22378314 CHRNA3 Human Theaflavin 3,3'-digallate affects expression EXP 6480464 theaflavin-3,3'-digallate affects the expression of CHRNA3 mRNA CTD PMID:34925699 CHRNA3 Human titanium dioxide decreases methylation ISO RGD:732614 6480464 titanium dioxide results in decreased methylation of CHRNA3 gene CTD PMID:35295148 CHRNA3 Human toluene multiple interactions EXP 6480464 Toluene inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:15885267 CHRNA3 Human toluene multiple interactions ISO RGD:2345 6480464 Toluene inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:15885267 CHRNA3 Human trichostatin A increases expression EXP 6480464 trichostatin A results in increased expression of CHRNA3 mRNA CTD PMID:24935251 CHRNA3 Human triptonide increases expression ISO RGD:732614 6480464 triptonide results in increased expression of CHRNA3 mRNA CTD PMID:33045310 CHRNA3 Human tubocurarine multiple interactions EXP 6480464 Tubocurarine inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to CHRNB2 more ... CTD PMID:16931985|PMID:34628512 CHRNA3 Human tubocurarine multiple interactions ISO RGD:2345 6480464 Tubocurarine inhibits the reaction [Acetylcholine binds to and results in increased activity of [CHRNB2 protein more ... CTD PMID:7808438|PMID:9687574 CHRNA3 Human valproic acid increases methylation EXP 6480464 Valproic Acid results in increased methylation of CHRNA3 gene CTD PMID:29154799 CHRNA3 Human valproic acid multiple interactions EXP 6480464 [NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ... CTD PMID:27188386 CHRNA3 Human valproic acid increases expression EXP 6480464 Valproic Acid results in increased expression of CHRNA3 mRNA CTD PMID:24935251|PMID:26272509|PMID:28001369 CHRNA3 Human valproic acid affects expression ISO RGD:732614 6480464 Valproic Acid affects the expression of CHRNA3 mRNA CTD PMID:26072468 CHRNA3 Human valproic acid affects expression EXP 6480464 Valproic Acid affects the expression of CHRNA3 mRNA CTD PMID:25979313|PMID:26072468 CHRNA3 Human varenicline multiple interactions ISO RGD:2345 6480464 Varenicline binds to and results in increased activity of [CHRNA3 protein binds to CHRNB2 protein]; more ... CTD PMID:16766716 CHRNA3 Human vecuronium bromide multiple interactions EXP 6480464 Vecuronium Bromide inhibits the reaction [Acetylcholine results in increased activity of [CHRNA3 protein binds to more ... CTD PMID:16931985 CHRNA3 Human vorinostat decreases expression EXP 6480464 vorinostat results in decreased expression of CHRNA3 mRNA CTD PMID:27188386
Imported Annotations - SMPDB
(S)-anabasine (ISO) (S)-nicotine (EXP,ISO) 1,1-dimethyl-4-phenylpiperazinium iodide (EXP,ISO) 1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene (ISO) 1,2-dichloroethane (ISO) 17alpha-ethynylestradiol (EXP) 17beta-estradiol (EXP) 17beta-estradiol 3-benzoate (ISO) 2,2',4,4',5,5'-hexachlorobiphenyl (ISO) 2,2',4,4'-Tetrabromodiphenyl ether (EXP) 2,2',5,5'-tetrachlorobiphenyl (ISO) 2,3,7,8-tetrachlorodibenzodioxine (ISO) 2,4,4'-trichlorobiphenyl (ISO) 2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP) 3,3',5,5'-tetrabromobisphenol A (EXP) 3H-1,2-dithiole-3-thione (ISO) 4-nonylphenol (EXP) 4-octylphenol (EXP) acetylcholine (EXP,ISO) acrylamide (EXP) aflatoxin B1 (EXP) all-trans-retinoic acid (EXP,ISO) amitriptyline (ISO) ammonium chloride (ISO) antirheumatic drug (EXP) aristolochic acid A (EXP) atracurium (EXP) belinostat (EXP) benzo[a]pyrene (EXP) bisphenol A (EXP,ISO) butanal (EXP) Butylbenzyl phthalate (ISO) cadmium dichloride (ISO) carbachol (ISO) carbamazepine (EXP) carbaryl (ISO) cisatracurium (EXP) cocaine (ISO) cytisine (EXP,ISO) DDE (ISO) decabromodiphenyl ether (EXP) diazinon (ISO) dieldrin (ISO) diethylstilbestrol (EXP) dihydro-beta-erythroidine (ISO) dopamine (ISO) dorsomorphin (EXP) doxorubicin (EXP) entinostat (EXP) epibatidine (EXP,ISO) EPTC (ISO) ethanol (ISO) fenoxycarb (ISO) fenvalerate (ISO) folic acid (ISO) fonofos (EXP) genistein (ISO) glyphosate (ISO) Hexamethonium (ISO) imidacloprid (EXP) Licochalcone B (EXP) Mecamylamine (ISO) mercury dichloride (ISO) methyllycaconitine (ISO) Mivacurium (EXP) N'-Nitrosonornicotine (EXP) N-methyl-4-phenylpyridinium (EXP) N-Nitrosopyrrolidine (EXP) nickel atom (ISO) nicotine (EXP,ISO) okadaic acid (EXP) pancuronium (EXP) panobinostat (EXP) parathion (EXP) PCB138 (ISO) pentanal (EXP) phenylmercury acetate (EXP) propanal (EXP) resveratrol (EXP) rocuronium (EXP) sarin (EXP) SB 431542 (EXP) sunitinib (EXP) tamoxifen (EXP) terbufos (EXP) Tetrachlorobisphenol A (EXP) tetrachloroethene (EXP,ISO) thapsigargin (EXP) Theaflavin 3,3'-digallate (EXP) titanium dioxide (ISO) toluene (EXP,ISO) trichostatin A (EXP) triptonide (ISO) tubocurarine (EXP,ISO) valproic acid (EXP,ISO) varenicline (ISO) vecuronium bromide (EXP) vorinostat (EXP)
Biological Process
acetylcholine receptor signaling pathway (IBA,ISS) activation of transmembrane receptor protein tyrosine kinase activity (ISO) behavioral response to nicotine (IMP,ISO) excitatory postsynaptic potential (ISO,ISS) heart development (ISO) locomotory behavior (ISO,ISS) membrane depolarization (IBA) monoatomic ion transmembrane transport (IBA,IEA) monoatomic ion transport (IEA,NAS) nervous system development (IMP) neuromuscular synaptic transmission (IBA) presynaptic modulation of chemical synaptic transmission (ISO) regulation of acetylcholine secretion, neurotransmission (ISO,ISS) regulation of dendrite morphogenesis (ISO,ISS) regulation of membrane potential (ISO,ISS) regulation of muscle contraction (ISO) regulation of smooth muscle contraction (ISO,ISS) response to acetylcholine (ISS) response to carbon monoxide (ISO) response to nicotine (IBA,ISO) response to xenobiotic stimulus (ISO) signal transduction (IDA) synaptic transmission involved in micturition (IMP,ISO) synaptic transmission, cholinergic (IBA,ISO,ISS)
Cellular Component
acetylcholine-gated channel complex (IBA,IDA,ISO,ISS) cation channel complex (IDA,ISS) cholinergic synapse (ISO) ciliary basal body (IDA) cytosol (IDA) dendrite (ISO,ISS) dopaminergic synapse (ISO) endoplasmic reticulum (IEA) Golgi apparatus (IEA) membrane (IEA,NAS) neuron projection (IBA) neuronal cell body (ISO,ISS) neurotransmitter receptor complex (IDA,ISS) nuclear speck (IDA) nucleolus (IDA) plasma membrane (IBA,IDA,IEA,TAS) plasma membrane raft (ISS) postsynaptic membrane (IEA) postsynaptic specialization membrane (ISO) protein-containing complex (ISO) synapse (IBA,IEA) synaptic membrane (IEA)
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In vitro and in vivo effects of an alpha3 neuronal nicotinic acetylcholine receptor antisense oligonucleotide.
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GOAs Human GO annotations
GOA_HUMAN data from the GO Consortium
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Why do young women smoke? VII COMT as a risk modifying gene for Nicotine dependence - role of gene-gene interaction, personality, and environmental factors.
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CHRNA5/CHRNA3 Locus Associates with Increased Mortality among Smokers.
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21.
OMIM Disease Annotation Pipeline
OMIM Disease Annotation Pipeline
22.
SMPDB Annotation Import Pipeline
Pipeline to import SMPDB annotations from SMPDB into RGD
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CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms are associated with heavy smoking, lung cancer, and chronic obstructive pulmonary disease in a mexican population.
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ClinVar Automated Import and Annotation Pipeline
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26.
Data Import for Chemical-Gene Interactions
RGD automated import pipeline for gene-chemical interactions
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CHRNA3 Human Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCh38 15 78,593,052 - 78,620,996 (-) NCBI GRCh38 GRCh38 hg38 GRCh38 GRCh38.p14 Ensembl 15 78,593,052 - 78,621,295 (-) Ensembl GRCh38 hg38 GRCh38 GRCh37 15 78,885,394 - 78,913,338 (-) NCBI GRCh37 GRCh37 hg19 GRCh37 Build 36 15 76,674,706 - 76,700,377 (-) NCBI NCBI36 Build 36 hg18 NCBI36 Build 34 15 76,674,706 - 76,700,377 NCBI Celera 15 55,821,707 - 55,849,902 (-) NCBI Celera Cytogenetic Map 15 q25.1 NCBI HuRef 15 55,642,483 - 55,671,504 (-) NCBI HuRef CHM1_1 15 79,003,962 - 79,032,196 (-) NCBI CHM1_1 T2T-CHM13v2.0 15 76,455,721 - 76,484,482 (-) NCBI T2T-CHM13v2.0
Chrna3 Mouse Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCm39 9 54,917,401 - 54,933,846 (-) NCBI GRCm39 GRCm39 mm39 GRCm39 Ensembl 9 54,917,395 - 54,933,846 (-) Ensembl GRCm39 Ensembl GRCm38 9 55,010,117 - 55,026,562 (-) NCBI GRCm38 GRCm38 mm10 GRCm38 GRCm38.p6 Ensembl 9 55,010,111 - 55,026,562 (-) Ensembl GRCm38 mm10 GRCm38 MGSCv37 9 54,859,150 - 54,874,366 (-) NCBI GRCm37 MGSCv37 mm9 NCBIm37 MGSCv36 9 54,809,480 - 54,824,696 (-) NCBI MGSCv36 mm8 Celera 9 52,254,751 - 52,269,961 (-) NCBI Celera Cytogenetic Map 9 B NCBI cM Map 9 29.84 NCBI
Chrna3 Rat Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCr8 8 64,297,755 - 64,311,251 (-) NCBI GRCr8 mRatBN7.2 8 55,401,668 - 55,415,165 (-) NCBI mRatBN7.2 mRatBN7.2 mRatBN7.2 Ensembl 8 55,401,702 - 55,415,165 (-) Ensembl mRatBN7.2 Ensembl UTH_Rnor_SHR_Utx 8 60,943,296 - 60,956,354 (-) NCBI Rnor_SHR UTH_Rnor_SHR_Utx UTH_Rnor_SHRSP_BbbUtx_1.0 8 59,222,294 - 59,235,355 (-) NCBI Rnor_SHRSP UTH_Rnor_SHRSP_BbbUtx_1.0 UTH_Rnor_WKY_Bbb_1.0 8 57,086,538 - 57,099,598 (-) NCBI Rnor_WKY UTH_Rnor_WKY_Bbb_1.0 Rnor_6.0 8 59,594,007 - 59,607,122 (-) NCBI Rnor6.0 Rnor_6.0 rn6 Rnor6.0 Rnor_6.0 Ensembl 8 59,592,403 - 59,607,275 (-) Ensembl Rnor6.0 rn6 Rnor6.0 Rnor_5.0 8 58,176,165 - 58,189,008 (-) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 RGSC_v3.4 8 58,570,223 - 58,583,594 (-) NCBI RGSC3.4 RGSC_v3.4 rn4 RGSC3.4 RGSC_v3.1 8 58,588,997 - 58,602,801 (-) NCBI Celera 8 54,888,972 - 54,929,562 (-) NCBI Celera Cytogenetic Map 8 q24 NCBI
Chrna3 Chinchilla Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChiLan1.0 Ensembl NW_004955450 977,075 - 1,011,372 (-) Ensembl ChiLan1.0 ChiLan1.0 NW_004955450 979,630 - 1,011,316 (-) NCBI ChiLan1.0 ChiLan1.0
CHRNA3 Bonobo Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl NHGRI_mPanPan1-v2 16 67,807,750 - 67,835,101 (-) NCBI NHGRI_mPanPan1-v2 NHGRI_mPanPan1 15 71,973,644 - 72,000,975 (-) NCBI NHGRI_mPanPan1 Mhudiblu_PPA_v0 15 57,523,553 - 57,550,228 (-) NCBI Mhudiblu_PPA_v0 Mhudiblu_PPA_v0 panPan3 PanPan1.1 15 76,486,416 - 76,513,899 (-) NCBI panpan1.1 PanPan1.1 panPan2 PanPan1.1 Ensembl 15 76,487,710 - 76,512,044 (-) Ensembl panpan1.1 panPan2
CHRNA3 Dog Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl CanFam3.1 13 38,330,287 - 38,343,142 (+) NCBI CanFam3.1 CanFam3.1 canFam3 CanFam3.1 CanFam3.1 Ensembl 13 38,328,814 - 38,346,246 (+) Ensembl CanFam3.1 canFam3 CanFam3.1 Dog10K_Boxer_Tasha 13 38,289,178 - 38,306,359 (+) NCBI Dog10K_Boxer_Tasha ROS_Cfam_1.0 13 38,802,608 - 38,819,775 (+) NCBI ROS_Cfam_1.0 ROS_Cfam_1.0 Ensembl 13 38,802,250 - 38,833,013 (+) Ensembl ROS_Cfam_1.0 Ensembl UMICH_Zoey_3.1 13 38,493,778 - 38,510,924 (+) NCBI UMICH_Zoey_3.1 UNSW_CanFamBas_1.0 13 38,603,187 - 38,616,744 (+) NCBI UNSW_CanFamBas_1.0 UU_Cfam_GSD_1.0 13 39,078,181 - 39,095,376 (+) NCBI UU_Cfam_GSD_1.0
Chrna3 Squirrel Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl HiC_Itri_2 NW_024408640 118,579,566 - 118,599,906 (+) NCBI HiC_Itri_2 SpeTri2.0 Ensembl NW_004936471 36,427,495 - 36,457,758 (+) Ensembl SpeTri2.0 SpeTri2.0 Ensembl SpeTri2.0 NW_004936471 36,427,598 - 36,447,903 (+) NCBI SpeTri2.0 SpeTri2.0 SpeTri2.0
CHRNA3 Pig Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl Sscrofa11.1 Ensembl 7 47,361,899 - 47,384,303 (+) Ensembl Sscrofa11.1 susScr11 Sscrofa11.1 Sscrofa11.1 7 47,361,710 - 47,382,743 (+) NCBI Sscrofa11.1 Sscrofa11.1 susScr11 Sscrofa11.1 Sscrofa10.2 7 52,787,929 - 52,806,220 (-) NCBI Sscrofa10.2 Sscrofa10.2 susScr3
CHRNA3 Green Monkey Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChlSab1.1 26 4,721,145 - 4,747,694 (+) NCBI ChlSab1.1 ChlSab1.1 chlSab2 ChlSab1.1 Ensembl 26 4,722,489 - 4,737,164 (+) Ensembl ChlSab1.1 ChlSab1.1 Ensembl chlSab2 Vero_WHO_p1.0 NW_023666048 137,048,285 - 137,075,017 (-) NCBI Vero_WHO_p1.0 Vero_WHO_p1.0
Chrna3
.
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=) single nucleotide variant
Lung cancer susceptibility 2 [RCV000019055 ]|SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 [RCV000033204 ]|not provided [RCV002514114 ]
Chr15:78601997 [GRCh38]
risk factor|benign|drug response
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346 ]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346 ]|See cases [RCV000052346 ]
Chr15:75307767..101723215 [GRCh38]
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain
See cases [RCV000052347 ]
Chr15:77543797..101843411 [GRCh38]
pathogenic
NM_001166694.1(CHRNA3):c.340C>T (p.Gln114Ter) single nucleotide variant
Malignant melanoma [RCV000070905 ]
Chr15:78617061 [GRCh38]
not provided
NM_000745.3(CHRNA5):c.533C>T (p.Pro178Leu) single nucleotide variant
Malignant melanoma [RCV000062930 ]
Chr15:78589924 [GRCh38]
not provided
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss
See cases [RCV000137079 ]
Chr15:76006154..79982417 [GRCh38]
pathogenic|uncertain significance
GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3 copy number gain
See cases [RCV000139779 ]
Chr15:78198708..78912913 [GRCh38]
likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss
See cases [RCV000141666 ]
Chr15:70025300..78705993 [GRCh38]
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain
See cases [RCV000142915 ]
Chr15:59828460..101920998 [GRCh38]
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain
See cases [RCV000143019 ]
Chr15:72154949..101920998 [GRCh38]
pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain
See cases [RCV000511332 ]
Chr15:76061144..102429112 [GRCh37]
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain
See cases [RCV000240602 ]
Chr15:64637227..102509910 [GRCh37]
pathogenic
GRCh37/hg19 15q25.1(chr15:78819698-79064139)x3 copy number gain
See cases [RCV000240295 ]
Chr15:78819698..79064139 [GRCh37]
uncertain significance
NM_000743.5(CHRNA3):c.159A>G (p.Val53=) single nucleotide variant
Urinary bladder, atony of [RCV001578888 ]|not provided [RCV002569101 ]
Chr15:78618839 [GRCh38]
benign
NM_000743.5(CHRNA3):c.268-5C>T single nucleotide variant
Urinary bladder, atony of [RCV001579080 ]|not provided [RCV002573247 ]
Chr15:78617138 [GRCh38]
benign
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain
not provided [RCV000415836 ]
Chr15:59297293..102480888 [GRCh37]
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain
See cases [RCV000447123 ]
Chr15:41745084..102354798 [GRCh37]
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain
See cases [RCV000447765 ]
Chr15:20733395..102511616 [GRCh37]
pathogenic
GRCh37/hg19 15q25.1(chr15:78849938-79066739)x3 copy number gain
See cases [RCV000448368 ]
Chr15:78849938..79066739 [GRCh37]
likely benign
NM_000743.5(CHRNA3):c.*546C>T single nucleotide variant
nicotine response - Toxicity/ADR, Metabolism/PK [RCV000417128 ]
Chr15:78596058 [GRCh38]
drug response
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) deletion
CHRNA3-related disorder [RCV000991220 ]|Urinary bladder, atony of [RCV005004185 ]|not provided [RCV000480331 ]
Chr15:78601734..78601735 [GRCh38]
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000743.5(CHRNA3):c.1472C>T (p.Thr491Ile) single nucleotide variant
not provided [RCV000486332 ]
Chr15:78596650 [GRCh38]
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain
See cases [RCV000510717 ]
Chr15:22770422..102429112 [GRCh37]
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain
See cases [RCV000512019 ]
Chr15:22770422..102429112 [GRCh37]
pathogenic
Single allele duplication
not provided [RCV000677926 ]
Chr15:31115047..102354857 [GRCh37]
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain
not provided [RCV000683703 ]
Chr15:71329220..102270758 [GRCh37]
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain
not provided [RCV000683710 ]
Chr15:77479244..102429112 [GRCh37]
pathogenic
NM_000743.5(CHRNA3):c.291A>G (p.Lys97=) single nucleotide variant
Urinary bladder, atony of [RCV001579079 ]|not provided [RCV002573246 ]
Chr15:78617110 [GRCh38]
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain
not provided [RCV000751155 ]
Chr15:20016811..102493540 [GRCh37]
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain
not provided [RCV000751156 ]
Chr15:20071673..102461162 [GRCh37]
pathogenic
NM_000743.5(CHRNA3):c.627C>A (p.Ile209=) single nucleotide variant
not provided [RCV000960286 ]
Chr15:78602015 [GRCh38]
benign
NM_000743.5(CHRNA3):c.83-4A>G single nucleotide variant
Urinary bladder, atony of [RCV001578889 ]|not provided [RCV001762729 ]
Chr15:78618919 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1A>G (p.Met1Val) single nucleotide variant
Amyotrophic lateral sclerosis [RCV001095529 ]
Chr15:78620794 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.459C>T (p.Ala153=) single nucleotide variant
Urinary bladder, atony of [RCV002479071 ]|not provided [RCV000921660 ]
Chr15:78602183 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1112C>T (p.Pro371Leu) single nucleotide variant
not provided [RCV000901285 ]
Chr15:78601530 [GRCh38]
benign
NM_000743.5(CHRNA3):c.268-4C>G single nucleotide variant
not provided [RCV000921066 ]
Chr15:78617137 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1113C>G (p.Pro371=) single nucleotide variant
not provided [RCV000920666 ]
Chr15:78601529 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1120G>A (p.Gly374Ser) single nucleotide variant
not provided [RCV000960953 ]
Chr15:78601522 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.981C>T (p.Asn327=) single nucleotide variant
not provided [RCV000916121 ]
Chr15:78601661 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1019C>G (p.Ser340Ter) single nucleotide variant
Urinary bladder, atony of [RCV000993665 ]
Chr15:78601623 [GRCh38]
pathogenic
NM_000743.5(CHRNA3):c.267+2T>G single nucleotide variant
Urinary bladder, atony of [RCV000993666 ]
Chr15:78618615 [GRCh38]
pathogenic
NM_000743.5(CHRNA3):c.725del (p.Leu242fs) deletion
Amyotrophic lateral sclerosis [RCV001095526 ]
Chr15:78601917 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.1010_1011del (p.Thr337fs) microsatellite
Urinary bladder, atony of [RCV000993664 ]
Chr15:78601631..78601632 [GRCh38]
pathogenic
NM_000743.5(CHRNA3):c.688G>A (p.Asp230Asn) single nucleotide variant
CHRNA3-related disorder [RCV000991221 ]|Urinary bladder, atony of [RCV005012419 ]
Chr15:78601954 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.268-64C>A single nucleotide variant
Urinary bladder, atony of [RCV001579081 ]|not provided [RCV004715524 ]
Chr15:78617197 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1197C>T (p.Asp399=) single nucleotide variant
Urinary bladder, atony of [RCV002495424 ]|not provided [RCV000896406 ]
Chr15:78601445 [GRCh38]
benign|likely benign
NM_000743.5(CHRNA3):c.564T>C (p.Asp188=) single nucleotide variant
Urinary bladder, atony of [RCV002479027 ]|not provided [RCV000896407 ]
Chr15:78602078 [GRCh38]
benign|likely benign
NM_000743.5(CHRNA3):c.1243T>G (p.Phe415Val) single nucleotide variant
not provided [RCV000911966 ]
Chr15:78601399 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1097C>T (p.Ala366Val) single nucleotide variant
Inborn genetic diseases [RCV003294679 ]
Chr15:78601545 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.49CTG[6] (p.Leu23del) microsatellite
Urinary bladder, atony of [RCV001578890 ]|not provided [RCV002568510 ]
Chr15:78620726..78620728 [GRCh38]
benign
NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg) single nucleotide variant
Amyotrophic lateral sclerosis [RCV001095525 ]
Chr15:78601890 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs) insertion
Amyotrophic lateral sclerosis [RCV001095527 ]
Chr15:78601933..78601934 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs) insertion
Amyotrophic lateral sclerosis [RCV001095528 ]
Chr15:78618636..78618637 [GRCh38]
likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication
Bloom syndrome [RCV001343104 ]|Familial colorectal cancer [RCV001325176 ]
Chr15:32964879..91358519 [GRCh37]
uncertain significance
NM_000743.5(CHRNA3):c.697T>C (p.Tyr233His) single nucleotide variant
Inborn genetic diseases [RCV004610486 ]
Chr15:78601945 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1099C>T (p.Gln367Ter) single nucleotide variant
Urinary bladder, atony of [RCV001535888 ]
Chr15:78601543 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.1107G>A (p.Pro369=) single nucleotide variant
not provided [RCV003117283 ]
Chr15:78601535 [GRCh38]
likely benign
NC_000015.9:g.(?_78857986)_(81282132_?)dup duplication
not provided [RCV003116793 ]
Chr15:78857986..81282132 [GRCh37]
uncertain significance
NM_000743.5(CHRNA3):c.267+14C>T single nucleotide variant
Squamous cell carcinoma [RCV003129645 ]
Chr15:78618603 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.378-230_378-229inv inversion
Lung adenocarcinoma [RCV003129633 ]
Chr15:78602493..78602494 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.518_519del (p.Cys173fs) deletion
Urinary bladder, atony of [RCV002463880 ]
Chr15:78602123..78602124 [GRCh38]
pathogenic
NM_000743.5(CHRNA3):c.615C>T (p.Gly205=) single nucleotide variant
not provided [RCV002750769 ]
Chr15:78602027 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1347G>A (p.Lys449=) single nucleotide variant
not provided [RCV002615614 ]
Chr15:78601295 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.999G>A (p.Pro333=) single nucleotide variant
not provided [RCV003095665 ]
Chr15:78601643 [GRCh38]
likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain
not provided [RCV002475797 ]
Chr15:77512817..102035027 [GRCh37]
pathogenic
NM_000743.5(CHRNA3):c.958G>A (p.Val320Ile) single nucleotide variant
Inborn genetic diseases [RCV002778089 ]
Chr15:78601684 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.957C>T (p.Ile319=) single nucleotide variant
not provided [RCV002751140 ]
Chr15:78601685 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1169G>C (p.Gly390Ala) single nucleotide variant
Inborn genetic diseases [RCV002686600 ]|Urinary bladder, atony of [RCV005002982 ]
Chr15:78601473 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.6C>T (p.Gly2=) single nucleotide variant
not provided [RCV002614095 ]
Chr15:78620789 [GRCh38]
benign
NM_000743.5(CHRNA3):c.377+1334T>C single nucleotide variant
not provided [RCV003076710 ]
Chr15:78615690 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1429C>A (p.Arg477Ser) single nucleotide variant
Inborn genetic diseases [RCV002883664 ]
Chr15:78596693 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1352T>C (p.Ile451Thr) single nucleotide variant
CHRNA3-related disorder [RCV003926729 ]|not provided [RCV002592189 ]
Chr15:78601290 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.576C>T (p.Ile192=) single nucleotide variant
not provided [RCV002953701 ]
Chr15:78602066 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.345G>A (p.Lys115=) single nucleotide variant
not provided [RCV003035451 ]
Chr15:78617056 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1495del (p.Pro498_Leu499insTer) deletion
Urinary bladder, atony of [RCV005002879 ]|not provided [RCV002735702 ]
Chr15:78596627 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1390-21_1390-18del deletion
not provided [RCV002760607 ]
Chr15:78596750..78596753 [GRCh38]
benign
NM_000743.5(CHRNA3):c.223-14A>G single nucleotide variant
not provided [RCV002735777 ]
Chr15:78618675 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.954C>T (p.Ser318=) single nucleotide variant
not provided [RCV002949498 ]
Chr15:78601688 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1090G>C (p.Gly364Arg) single nucleotide variant
Inborn genetic diseases [RCV002739394 ]
Chr15:78601552 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.151C>T (p.Arg51Trp) single nucleotide variant
Inborn genetic diseases [RCV002783940 ]
Chr15:78618847 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.649C>T (p.His217Tyr) single nucleotide variant
not provided [RCV002913175 ]
Chr15:78601993 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.554C>T (p.Ala185Val) single nucleotide variant
not provided [RCV002999376 ]
Chr15:78602088 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1493C>T (p.Pro498Leu) single nucleotide variant
Inborn genetic diseases [RCV002888651 ]|Urinary bladder, atony of [RCV005011155 ]
Chr15:78596629 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1057G>A (p.Val353Ile) single nucleotide variant
Inborn genetic diseases [RCV002924300 ]|Urinary bladder, atony of [RCV005002999 ]
Chr15:78601585 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.110G>A (p.Arg37His) single nucleotide variant
not provided [RCV002866142 ]
Chr15:78618888 [GRCh38]
benign
NM_000743.5(CHRNA3):c.49CTG[8] (p.Leu23_Ser24insLeu) microsatellite
not provided [RCV002760550 ]
Chr15:78620725..78620726 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1390-22_1390-18del deletion
not provided [RCV002875802 ]
Chr15:78596750..78596754 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1459T>A (p.Cys487Ser) single nucleotide variant
not provided [RCV003056223 ]
Chr15:78596663 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.50T>G (p.Leu17Arg) single nucleotide variant
not provided [RCV002765888 ]
Chr15:78620745 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.49CTG[9] (p.Leu23_Ser24insLeuLeu) microsatellite
not provided [RCV002740753 ]
Chr15:78620725..78620726 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.763A>G (p.Ile255Val) single nucleotide variant
not provided [RCV002741458 ]
Chr15:78601879 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.198G>A (p.Val66=) single nucleotide variant
not provided [RCV002632794 ]
Chr15:78618800 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1478G>C (p.Gly493Ala) single nucleotide variant
Inborn genetic diseases [RCV002714101 ]|Urinary bladder, atony of [RCV005002986 ]
Chr15:78596644 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1163C>T (p.Ser388Phe) single nucleotide variant
Urinary bladder, atony of [RCV005002911 ]|not provided [RCV002966208 ]
Chr15:78601479 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.377+8G>C single nucleotide variant
not provided [RCV002899794 ]
Chr15:78617016 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1351_1353del (p.Ile451del) deletion
not provided [RCV002627835 ]
Chr15:78601289..78601291 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1259C>T (p.Thr420Met) single nucleotide variant
not provided [RCV003009054 ]
Chr15:78601383 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.275A>G (p.Asn92Ser) single nucleotide variant
Inborn genetic diseases [RCV004973804 ]|Urinary bladder, atony of [RCV005006617 ]
Chr15:78617126 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1488G>A (p.Leu496=) single nucleotide variant
not provided [RCV002633208 ]
Chr15:78596634 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.82+11A>G single nucleotide variant
not provided [RCV002613334 ]
Chr15:78620702 [GRCh38]
benign
NM_000743.5(CHRNA3):c.1001C>A (p.Thr334Lys) single nucleotide variant
Inborn genetic diseases [RCV003269404 ]|Urinary bladder, atony of [RCV005010928 ]|not provided [RCV003051243 ]
Chr15:78601641 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.471C>T (p.Ser157=) single nucleotide variant
not provided [RCV003073058 ]
Chr15:78602171 [GRCh38]
likely benign
NM_000745.4(CHRNA5):c.*747T>C single nucleotide variant
Squamous cell carcinoma [RCV003129697 ]
Chr15:78594000 [GRCh38]
uncertain significance
NM_001166694.2(CHRNA3):c.1390-614A>G single nucleotide variant
Lung adenocarcinoma [RCV003129695 ]
Chr15:78593805 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.653A>T (p.Asp218Val) single nucleotide variant
Inborn genetic diseases [RCV003215969 ]
Chr15:78601989 [GRCh38]
uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain
not provided [RCV003222839 ]
Chr15:67358491..91644328 [GRCh37]
pathogenic
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain
See cases [RCV003329502 ]
Chr15:75165490..102520892 [GRCh37]
pathogenic
NM_000745.4(CHRNA5):c.1312G>C (p.Val438Leu) single nucleotide variant
not specified [RCV004345284 ]
Chr15:78593158 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1430G>A (p.Arg477His) single nucleotide variant
Inborn genetic diseases [RCV003371738 ]|Urinary bladder, atony of [RCV005012908 ]
Chr15:78596692 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.936G>A (p.Met312Ile) single nucleotide variant
not provided [RCV003400969 ]
Chr15:78601706 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.87C>T (p.Ala29=) single nucleotide variant
not provided [RCV003544810 ]
Chr15:78618911 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.378-18C>A single nucleotide variant
not provided [RCV003664647 ]
Chr15:78602282 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.807C>T (p.Cys269=) single nucleotide variant
not provided [RCV003698252 ]
Chr15:78601835 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1383C>T (p.Ala461=) single nucleotide variant
not provided [RCV003561647 ]
Chr15:78601259 [GRCh38]
benign
NM_000743.5(CHRNA3):c.231A>T (p.Val77=) single nucleotide variant
not provided [RCV003663801 ]
Chr15:78618653 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1332C>T (p.Ala444=) single nucleotide variant
not provided [RCV003871381 ]
Chr15:78601310 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.867G>A (p.Val289=) single nucleotide variant
Urinary bladder, atony of [RCV005003696 ]|not provided [RCV003721689 ]
Chr15:78601775 [GRCh38]
likely benign|uncertain significance
NM_000743.5(CHRNA3):c.972C>T (p.Phe324=) single nucleotide variant
not provided [RCV003720129 ]
Chr15:78601670 [GRCh38]
likely benign
GRCh37/hg19 15q25.1(chr15:78854250-79085390)x3 copy number gain
not specified [RCV003987109 ]
Chr15:78854250..79085390 [GRCh37]
uncertain significance
GRCh37/hg19 15q25.1(chr15:78854250-79045089)x3 copy number gain
not specified [RCV003987116 ]
Chr15:78854250..79045089 [GRCh37]
uncertain significance
NM_000743.5(CHRNA3):c.299C>T (p.Pro100Leu) single nucleotide variant
Inborn genetic diseases [RCV004441476 ]
Chr15:78617102 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.283A>G (p.Lys95Glu) single nucleotide variant
Inborn genetic diseases [RCV004441475 ]
Chr15:78617118 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.577G>A (p.Gly193Ser) single nucleotide variant
Inborn genetic diseases [RCV004441477 ]
Chr15:78602065 [GRCh38]
uncertain significance
NM_000745.4(CHRNA5):c.1389T>G (p.Ile463Met) single nucleotide variant
not specified [RCV004610491 ]
Chr15:78593235 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1150A>G (p.Ser384Gly) single nucleotide variant
Inborn genetic diseases [RCV004610485 ]
Chr15:78601492 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.49CTG[5] (p.Leu22_Leu23del) microsatellite
CHRNA3-related disorder [RCV004735176 ]
Chr15:78620726..78620731 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.518dup (p.Cys173fs) duplication
CHRNA3-related disorder [RCV004724641 ]
Chr15:78602123..78602124 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.455C>T (p.Pro152Leu) single nucleotide variant
Urinary bladder, atony of [RCV005011953 ]
Chr15:78602187 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.402C>T (p.Asp134=) single nucleotide variant
Urinary bladder, atony of [RCV005011955 ]
Chr15:78602240 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.377+10dup duplication
Urinary bladder, atony of [RCV005011956 ]
Chr15:78617013..78617014 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.268-19C>G single nucleotide variant
Urinary bladder, atony of [RCV005011958 ]
Chr15:78617152 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.223-1G>A single nucleotide variant
Urinary bladder, atony of [RCV005011963 ]
Chr15:78618662 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.146T>A (p.Ile49Asn) single nucleotide variant
Urinary bladder, atony of [RCV005011967 ]
Chr15:78618852 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1198G>A (p.Gly400Arg) single nucleotide variant
Urinary bladder, atony of [RCV005011941 ]
Chr15:78601444 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1153C>T (p.Arg385Cys) single nucleotide variant
Urinary bladder, atony of [RCV005011942 ]
Chr15:78601489 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.980A>G (p.Asn327Ser) single nucleotide variant
Urinary bladder, atony of [RCV005011945 ]
Chr15:78601662 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.713G>A (p.Arg238Gln) single nucleotide variant
Urinary bladder, atony of [RCV005011946 ]
Chr15:78601929 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.648A>C (p.Lys216Asn) single nucleotide variant
Urinary bladder, atony of [RCV005011947 ]
Chr15:78601994 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.635C>T (p.Ala212Val) single nucleotide variant
Urinary bladder, atony of [RCV005011948 ]
Chr15:78602007 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.578G>A (p.Gly193Asp) single nucleotide variant
Urinary bladder, atony of [RCV005011949 ]
Chr15:78602064 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.560T>C (p.Ile187Thr) single nucleotide variant
Urinary bladder, atony of [RCV005011950 ]
Chr15:78602082 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.473C>T (p.Ser158Phe) single nucleotide variant
Urinary bladder, atony of [RCV005011952 ]
Chr15:78602169 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.405C>G (p.Asp135Glu) single nucleotide variant
Urinary bladder, atony of [RCV005011954 ]
Chr15:78602237 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.268-19C>T single nucleotide variant
Urinary bladder, atony of [RCV005011957 ]
Chr15:78617152 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.262A>T (p.Lys88Ter) single nucleotide variant
Urinary bladder, atony of [RCV005011960 ]
Chr15:78618622 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.262A>G (p.Lys88Glu) single nucleotide variant
Urinary bladder, atony of [RCV005011961 ]
Chr15:78618622 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.228A>G (p.Glu76=) single nucleotide variant
Urinary bladder, atony of [RCV005011962 ]
Chr15:78618656 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.218A>G (p.Lys73Arg) single nucleotide variant
Urinary bladder, atony of [RCV005011964 ]
Chr15:78618780 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.200C>T (p.Ser67Phe) single nucleotide variant
Urinary bladder, atony of [RCV005011965 ]
Chr15:78618798 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.179T>C (p.Val60Ala) single nucleotide variant
Urinary bladder, atony of [RCV005011966 ]
Chr15:78618819 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1226G>A (p.Arg409Lys) single nucleotide variant
Urinary bladder, atony of [RCV005011940 ]
Chr15:78601416 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.552G>T (p.Lys184Asn) single nucleotide variant
Urinary bladder, atony of [RCV005011951 ]
Chr15:78602090 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1465C>A (p.Leu489Ile) single nucleotide variant
Urinary bladder, atony of [RCV005011937 ]
Chr15:78596657 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1462A>C (p.Ile488Leu) single nucleotide variant
Urinary bladder, atony of [RCV005011938 ]
Chr15:78596660 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1370C>T (p.Ala457Val) single nucleotide variant
Urinary bladder, atony of [RCV005011939 ]
Chr15:78601272 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.110G>C (p.Arg37Pro) single nucleotide variant
Urinary bladder, atony of [RCV005011968 ]
Chr15:78618888 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.97G>A (p.Glu33Lys) single nucleotide variant
Urinary bladder, atony of [RCV005011969 ]
Chr15:78618901 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1121G>A (p.Gly374Asp) single nucleotide variant
Urinary bladder, atony of [RCV005011943 ]
Chr15:78601521 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1106C>T (p.Pro369Leu) single nucleotide variant
Urinary bladder, atony of [RCV005011944 ]
Chr15:78601536 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.267+3_267+6del microsatellite
Urinary bladder, atony of [RCV005011959 ]
Chr15:78618611..78618614 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1355C>T (p.Ala452Val) single nucleotide variant
Urinary bladder, atony of [RCV005003215 ]
Chr15:78601287 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1211A>G (p.Tyr404Cys) single nucleotide variant
Urinary bladder, atony of [RCV005003218 ]
Chr15:78601431 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1138C>G (p.Leu380Val) single nucleotide variant
Urinary bladder, atony of [RCV005003220 ]
Chr15:78601504 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1014G>T (p.Met338Ile) single nucleotide variant
Urinary bladder, atony of [RCV005003222 ]
Chr15:78601628 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.584C>T (p.Ser195Phe) single nucleotide variant
Urinary bladder, atony of [RCV005003228 ]
Chr15:78602058 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1272T>G (p.Ser424Arg) single nucleotide variant
Inborn genetic diseases [RCV004973810 ]
Chr15:78601370 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1222C>T (p.Arg408Cys) single nucleotide variant
Urinary bladder, atony of [RCV005003217 ]
Chr15:78601420 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.547G>A (p.Asp183Asn) single nucleotide variant
Urinary bladder, atony of [RCV005003229 ]
Chr15:78602095 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1304_1305del (p.Ser435fs) microsatellite
Urinary bladder, atony of [RCV005003216 ]
Chr15:78601337..78601338 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.1156G>A (p.Ala386Thr) single nucleotide variant
Urinary bladder, atony of [RCV005003219 ]
Chr15:78601486 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.913G>T (p.Gly305Ter) single nucleotide variant
Urinary bladder, atony of [RCV005003224 ]
Chr15:78601729 [GRCh38]
likely pathogenic
NM_000743.5(CHRNA3):c.46C>T (p.Arg16Trp) single nucleotide variant
Inborn genetic diseases [RCV004973807 ]
Chr15:78620749 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.655A>T (p.Ile219Phe) single nucleotide variant
Inborn genetic diseases [RCV004973808 ]
Chr15:78601987 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.279C>G (p.Asp93Glu) single nucleotide variant
Inborn genetic diseases [RCV004973801 ]
Chr15:78617122 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.427T>A (p.Tyr143Asn) single nucleotide variant
Inborn genetic diseases [RCV004973806 ]
Chr15:78602215 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1403G>T (p.Trp468Leu) single nucleotide variant
Urinary bladder, atony of [RCV005003213 ]
Chr15:78596719 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1381G>A (p.Ala461Thr) single nucleotide variant
Urinary bladder, atony of [RCV005003214 ]
Chr15:78601261 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1475C>T (p.Ala492Val) single nucleotide variant
Urinary bladder, atony of [RCV005003212 ]
Chr15:78596647 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.537C>G (p.Ser179=) single nucleotide variant
Urinary bladder, atony of [RCV005003230 ]
Chr15:78602105 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1075C>T (p.Pro359Ser) single nucleotide variant
Urinary bladder, atony of [RCV005003221 ]
Chr15:78601567 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.959T>C (p.Val320Ala) single nucleotide variant
Urinary bladder, atony of [RCV005003223 ]
Chr15:78601683 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.808G>A (p.Gly270Ser) single nucleotide variant
Urinary bladder, atony of [RCV005003226 ]
Chr15:78601834 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.749T>A (p.Ile250Asn) single nucleotide variant
Urinary bladder, atony of [RCV005003227 ]
Chr15:78601893 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1443G>A (p.Trp481Ter) single nucleotide variant
Inborn genetic diseases [RCV004967838 ]
Chr15:78596679 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.121C>T (p.Arg41Trp) single nucleotide variant
Inborn genetic diseases [RCV004973802 ]
Chr15:78618877 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.1103del (p.Lys368fs) deletion
Inborn genetic diseases [RCV004973803 ]
Chr15:78601539 [GRCh38]
pathogenic
NM_000743.5(CHRNA3):c.1012A>G (p.Met338Val) single nucleotide variant
Inborn genetic diseases [RCV004973809 ]
Chr15:78601630 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.851C>T (p.Thr284Met) single nucleotide variant
Urinary bladder, atony of [RCV005003225 ]
Chr15:78601791 [GRCh38]
uncertain significance
NM_000743.5(CHRNA3):c.377+14G>T single nucleotide variant
not provided [RCV005175298 ]
Chr15:78617010 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.801C>T (p.Ser267=) single nucleotide variant
not provided [RCV005191512 ]
Chr15:78601841 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.825G>A (p.Leu275=) single nucleotide variant
not provided [RCV005120699 ]
Chr15:78601817 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.377+16G>A single nucleotide variant
not provided [RCV005167257 ]
Chr15:78617008 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.687C>T (p.Pro229=) single nucleotide variant
not provided [RCV005194648 ]
Chr15:78601955 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1039T>C (p.Leu347=) single nucleotide variant
not provided [RCV005141524 ]
Chr15:78601603 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.249C>A (p.Thr83=) single nucleotide variant
not provided [RCV005166898 ]
Chr15:78618635 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1086C>T (p.Asn362=) single nucleotide variant
not provided [RCV005188984 ]
Chr15:78601556 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1389+14T>C single nucleotide variant
not provided [RCV005162418 ]
Chr15:78601239 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.1495C>A (p.Leu499Met) single nucleotide variant
not provided [RCV005181286 ]
Chr15:78596627 [GRCh38]
likely benign
NM_000743.5(CHRNA3):c.966C>T (p.Thr322=) single nucleotide variant
not provided [RCV005177520 ]
Chr15:78601676 [GRCh38]
likely benign
Predicted Target Of
Count of predictions: 1746 Count of miRNA genes: 900 Interacting mature miRNAs: 1046 Transcripts: ENST00000326828, ENST00000348639, ENST00000558903, ENST00000559002, ENST00000559080, ENST00000559658, ENST00000559941, ENST00000561128 Prediction methods: Microtar, Miranda, Rnahybrid, Targetscan Result types: miRGate_prediction
406954051 GWAS603027_H forced expiratory volume, response to bronchodilator QTL GWAS603027 (human) 0.0000002 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78616728 78616729 Human 407160646 GWAS809622_H FEV/FVC ratio, response to bronchodilator QTL GWAS809622 (human) 5e-09 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78617916 78617917 Human 597590429 GWAS1647289_H chronic obstructive pulmonary disease QTL GWAS1647289 (human) 3e-93 lung integrity trait (VT:0010906) 15 78606381 78606382 Human 597019542 GWAS1115616_H forced expiratory volume, response to bronchodilator QTL GWAS1115616 (human) 3e-16 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78608359 78608360 Human 597020819 GWAS1116893_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116893 (human) 0.0000003 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78613835 78613836 Human 407160642 GWAS809618_H FEV/FVC ratio, response to bronchodilator QTL GWAS809618 (human) 9e-09 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78620601 78620602 Human 597611673 GWAS1668533_H Abnormal lung morphology QTL GWAS1668533 (human) 1e-21 Abnormal lung morphology 15 78608566 78608567 Human 597123741 GWAS1219815_H chronic obstructive pulmonary disease QTL GWAS1219815 (human) 5e-28 lung integrity trait (VT:0010906) 15 78603787 78603788 Human 597061532 GWAS1157606_H age at menarche QTL GWAS1157606 (human) 0.0000001 age at menarche 15 78619330 78619331 Human 597332884 GWAS1428958_H cigarettes per day measurement QTL GWAS1428958 (human) 3e-40 cigarettes per day measurement 15 78603787 78603788 Human 597094022 GWAS1190096_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190096 (human) 2e-08 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78607377 78607378 Human 597621391 GWAS1678251_H peripheral vascular disease QTL GWAS1678251 (human) 9e-16 peripheral vascular disease 15 78606381 78606382 Human 406954067 GWAS603043_H forced expiratory volume, response to bronchodilator QTL GWAS603043 (human) 9e-08 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78599285 78599286 Human 597619596 GWAS1676456_H aortic aneurysm QTL GWAS1676456 (human) 2e-13 aortic aneurysm 15 78608308 78608309 Human 597094021 GWAS1190095_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190095 (human) 2e-08 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78604205 78604206 Human 597094030 GWAS1190104_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190104 (human) 0.000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78615064 78615065 Human 406954073 GWAS603049_H forced expiratory volume, response to bronchodilator QTL GWAS603049 (human) 0.0000001 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78615690 78615691 Human 406892122 GWAS541098_H FEV/FVC ratio QTL GWAS541098 (human) 1e-14 FEV/FVC ratio forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606661 78606662 Human 406954075 GWAS603051_H forced expiratory volume, response to bronchodilator QTL GWAS603051 (human) 0.0000001 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78615064 78615065 Human 597360001 GWAS1456075_H forced expiratory volume, response to bronchodilator QTL GWAS1456075 (human) 6e-15 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78593856 78593857 Human 406954074 GWAS603050_H forced expiratory volume, response to bronchodilator QTL GWAS603050 (human) 0.0000001 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78615517 78615518 Human 406954076 GWAS603052_H forced expiratory volume, response to bronchodilator QTL GWAS603052 (human) 0.0000001 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78615314 78615315 Human 597214392 GWAS1310466_H schizophrenia QTL GWAS1310466 (human) 3e-12 schizophrenia 15 78602417 78602418 Human 407024480 GWAS673456_H pulmonary function measurement, forced expiratory volume QTL GWAS673456 (human) 0.0000005 pulmonary function measurement, forced expiratory volume forced expiratory volume (CMO:0000254) 15 78606381 78606382 Human 597041842 GWAS1137916_H schizophrenia QTL GWAS1137916 (human) 3e-12 schizophrenia 15 78616223 78616224 Human 597231286 GWAS1327360_H cigarettes per day measurement QTL GWAS1327360 (human) 4e-167 cigarettes per day measurement 15 78607377 78607378 Human 406977393 GWAS626369_H forced expiratory volume, response to bronchodilator QTL GWAS626369 (human) 7e-08 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78615668 78615669 Human 406973808 GWAS622784_H forced expiratory volume, response to bronchodilator QTL GWAS622784 (human) 0.0000007 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78608567 78608568 Human 406977392 GWAS626368_H forced expiratory volume, response to bronchodilator QTL GWAS626368 (human) 6e-08 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78615812 78615813 Human 597589676 GWAS1646536_H atherosclerosis QTL GWAS1646536 (human) 5e-16 atherosclerosis 15 78618839 78618840 Human 597232042 GWAS1328116_H smoking cessation QTL GWAS1328116 (human) 1e-41 smoking cessation 15 78604205 78604206 Human 597401775 GWAS1497849_H FEV/FVC ratio, response to bronchodilator QTL GWAS1497849 (human) 3e-15 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78593856 78593857 Human 597401774 GWAS1497848_H FEV/FVC ratio, response to bronchodilator QTL GWAS1497848 (human) 3e-15 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78594605 78594606 Human 597020834 GWAS1116908_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116908 (human) 0.0000005 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78608359 78608360 Human 597020589 GWAS1116663_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116663 (human) 0.0000002 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78601997 78601998 Human 597590948 GWAS1647808_H asphyxia, hypoxemia QTL GWAS1647808 (human) 2e-21 asphyxia, hypoxemia 15 78606381 78606382 Human 597020585 GWAS1116659_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116659 (human) 0.0000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606661 78606662 Human 406968956 GWAS617932_H forced expiratory volume, response to bronchodilator QTL GWAS617932 (human) 8e-14 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78619330 78619331 Human 597341092 GWAS1437166_H chronic obstructive pulmonary disease QTL GWAS1437166 (human) 7e-60 lung integrity trait (VT:0010906) 15 78618839 78618840 Human 597020586 GWAS1116660_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116660 (human) 0.0000002 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78608566 78608567 Human 406969859 GWAS618835_H forced expiratory volume, response to bronchodilator QTL GWAS618835 (human) 6e-17 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78608566 78608567 Human 597123797 GWAS1219871_H chronic obstructive pulmonary disease QTL GWAS1219871 (human) 3e-08 lung integrity trait (VT:0010906) 15 78618839 78618840 Human 406969858 GWAS618834_H forced expiratory volume, response to bronchodilator QTL GWAS618834 (human) 5e-18 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78606661 78606662 Human 597226971 GWAS1323045_H cigarettes per day measurement QTL GWAS1323045 (human) 2e-17 cigarettes per day measurement 15 78613835 78613836 Human 597226972 GWAS1323046_H cigarettes per day measurement QTL GWAS1323046 (human) 2e-58 cigarettes per day measurement 15 78616223 78616224 Human 407029255 GWAS678231_H smoking behavior QTL GWAS678231 (human) 2e-66 smoking behavior 15 78601997 78601998 Human 597226973 GWAS1323047_H cigarettes per day measurement QTL GWAS1323047 (human) 2e-10 cigarettes per day measurement 15 78618839 78618840 Human 597093854 GWAS1189928_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189928 (human) 0.000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78616223 78616224 Human 406969866 GWAS618842_H forced expiratory volume, response to bronchodilator QTL GWAS618842 (human) 1e-17 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78606381 78606382 Human 597587154 GWAS1644014_H chronic lung disease QTL GWAS1644014 (human) 6e-56 chronic lung disease 15 78618839 78618840 Human 597069017 GWAS1165091_H autism spectrum disorder, schizophrenia QTL GWAS1165091 (human) 2e-08 autism spectrum disorder, schizophrenia 15 78615394 78615395 Human 597077958 GWAS1174032_H cigarettes per day measurement QTL GWAS1174032 (human) 6e-121 cigarettes per day measurement 15 78601997 78601998 Human 407125012 GWAS773988_H schizophrenia QTL GWAS773988 (human) 2e-13 schizophrenia 15 78615690 78615691 Human 407052305 GWAS701281_H lung carcinoma QTL GWAS701281 (human) 8e-12 lung carcinoma 15 78615690 78615691 Human 597020614 GWAS1116688_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116688 (human) 0.0000004 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78603787 78603788 Human 597120195 GWAS1216269_H chronic obstructive pulmonary disease QTL GWAS1216269 (human) 2e-08 lung integrity trait (VT:0010906) 15 78618839 78618840 Human 597219790 GWAS1315864_H lung carcinoma QTL GWAS1315864 (human) 6e-09 lung carcinoma 15 78606381 78606382 Human 597095360 GWAS1191434_H FEV/FVC ratio, response to bronchodilator QTL GWAS1191434 (human) 2e-14 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78619330 78619331 Human 597093825 GWAS1189899_H schizophrenia QTL GWAS1189899 (human) 1e-12 schizophrenia 15 78615690 78615691 Human 597359810 GWAS1455884_H forced expiratory volume, response to bronchodilator QTL GWAS1455884 (human) 5e-15 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78594605 78594606 Human 597277377 GWAS1373451_H diet measurement QTL GWAS1373451 (human) 5e-09 eating behavior trait (VT:0001431) food intake measurement (CMO:0000772) 15 78601997 78601998 Human 597093583 GWAS1189657_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189657 (human) 2e-08 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606871 78606872 Human 597123278 GWAS1219352_H chronic obstructive pulmonary disease QTL GWAS1219352 (human) 7e-20 lung integrity trait (VT:0010906) 15 78618839 78618840 Human 597095373 GWAS1191447_H FEV/FVC ratio, response to bronchodilator QTL GWAS1191447 (human) 0.0000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78618120 78618121 Human 597123274 GWAS1219348_H smoking status measurement, chronic obstructive pulmonary disease QTL GWAS1219348 (human) 2e-09 lung integrity trait (VT:0010906) 15 78620601 78620602 Human 597077961 GWAS1174035_H cigarettes per day measurement QTL GWAS1174035 (human) 2e-69 cigarettes per day measurement 15 78604205 78604206 Human 406963230 GWAS612206_H chronic obstructive pulmonary disease QTL GWAS612206 (human) 0.0000006 serum albumin measurement 15 78606381 78606382 Human 597094646 GWAS1190720_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190720 (human) 0.000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78615517 78615518 Human 407046947 GWAS695923_H energy expenditure QTL GWAS695923 (human) 6e-08 energy expenditure trait (VT:0005450) 15 78618839 78618840 Human 407161383 GWAS810359_H FEV/FVC ratio, response to bronchodilator QTL GWAS810359 (human) 0.000002 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78617925 78617926 Human 597162994 GWAS1259068_H chronic bronchitis QTL GWAS1259068 (human) 2e-16 chronic bronchitis 15 78606381 78606382 Human 597043952 GWAS1140026_H cigarettes per day measurement QTL GWAS1140026 (human) 2e-20 cigarettes per day measurement 15 78618839 78618840 Human 597093374 GWAS1189448_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189448 (human) 6e-18 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606381 78606382 Human 597171184 GWAS1267258_H cigarettes per day measurement QTL GWAS1267258 (human) 3e-42 cigarettes per day measurement 15 78615394 78615395 Human 406976553 GWAS625529_H forced expiratory volume, response to bronchodilator QTL GWAS625529 (human) 1e-13 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78618839 78618840 Human 597020669 GWAS1116743_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116743 (human) 0.0000003 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78619330 78619331 Human 597468149 GWAS1564223_H FEV/FVC ratio, response to bronchodilator QTL GWAS1564223 (human) 0.0000004 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78594605 78594606 Human 597468150 GWAS1564224_H FEV/FVC ratio, response to bronchodilator QTL GWAS1564224 (human) 0.0000005 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78593856 78593857 Human 597214196 GWAS1310270_H velopharyngeal dysfunction QTL GWAS1310270 (human) 0.000001 velopharyngeal dysfunction 15 78615003 78615004 Human 597094650 GWAS1190724_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190724 (human) 0.0000003 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78615812 78615813 Human 597094648 GWAS1190722_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190722 (human) 0.000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78615690 78615691 Human 597038073 GWAS1134147_H parental longevity QTL GWAS1134147 (human) 0.0000002 total life span (VT:0001661) 15 78603787 78603788 Human 597063141 GWAS1159215_H autism spectrum disorder, schizophrenia QTL GWAS1159215 (human) 5e-10 autism spectrum disorder, schizophrenia 15 78615690 78615691 Human 597590504 GWAS1647364_H lung disease QTL GWAS1647364 (human) 3e-12 lung disease 15 78618839 78618840 Human 597124064 GWAS1220138_H smoking status measurement, chronic obstructive pulmonary disease QTL GWAS1220138 (human) 8e-24 lung integrity trait (VT:0010906) 15 78618839 78618840 Human 597095148 GWAS1191222_H FEV/FVC ratio, response to bronchodilator QTL GWAS1191222 (human) 0.000004 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78600319 78600320 Human 406948667 GWAS597643_H chronic obstructive pulmonary disease, chronic bronchitis QTL GWAS597643 (human) 0.000003 lung integrity trait (VT:0010906) 15 78606381 78606382 Human 597037036 GWAS1133110_H lung carcinoma, family history of lung cancer QTL GWAS1133110 (human) 4e-13 lung carcinoma, family history of lung cancer 15 78618839 78618840 Human 597043949 GWAS1140023_H cigarettes per day measurement QTL GWAS1140023 (human) 4e-10 cigarettes per day measurement 15 78606381 78606382 Human 406977338 GWAS626314_H forced expiratory volume, response to bronchodilator QTL GWAS626314 (human) 0.0000002 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78616223 78616224 Human 406948669 GWAS597645_H chronic obstructive pulmonary disease, chronic bronchitis QTL GWAS597645 (human) 2e-08 lung integrity trait (VT:0010906) 15 78606381 78606382 Human 406963651 GWAS612627_H forced expiratory volume, response to bronchodilator QTL GWAS612627 (human) 0.000003 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78602417 78602418 Human 597217307 GWAS1313381_H schizophrenia QTL GWAS1313381 (human) 6e-13 schizophrenia 15 78616223 78616224 Human 407024838 GWAS673814_H smoking behavior QTL GWAS673814 (human) 3e-73 smoking behavior 15 78601997 78601998 Human 597212444 GWAS1308518_H obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1308518 (human) 6e-12 obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder 15 78616223 78616224 Human 597027347 GWAS1123421_H schizophrenia QTL GWAS1123421 (human) 3e-12 schizophrenia 15 78615812 78615813 Human 597020702 GWAS1116776_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116776 (human) 0.0000008 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606381 78606382 Human 597038105 GWAS1134179_H parental longevity QTL GWAS1134179 (human) 2e-31 total life span (VT:0001661) 15 78603787 78603788 Human 597020698 GWAS1116772_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116772 (human) 0.0000002 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606590 78606591 Human 597093379 GWAS1189453_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189453 (human) 1e-16 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78601997 78601998 Human 597122049 GWAS1218123_H schizophrenia, anorexia nervosa QTL GWAS1218123 (human) 4e-08 schizophrenia, anorexia nervosa 15 78616728 78616729 Human 406963929 GWAS612905_H forced expiratory volume, response to bronchodilator QTL GWAS612905 (human) 5e-10 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78617916 78617917 Human 406890973 GWAS539949_H FEV/FVC ratio QTL GWAS539949 (human) 0.000002 FEV/FVC ratio forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606661 78606662 Human 406963932 GWAS612908_H forced expiratory volume, response to bronchodilator QTL GWAS612908 (human) 5e-08 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78617925 78617926 Human 407161818 GWAS810794_H FEV/FVC ratio, response to bronchodilator QTL GWAS810794 (human) 2e-19 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606590 78606591 Human 596972555 GWAS1092074_H obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1092074 (human) 6e-12 obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder 15 78616223 78616224 Human 407234789 GWAS883765_H emphysema pattern measurement QTL GWAS883765 (human) 1e-14 emphysema pattern measurement 15 78608359 78608360 Human 597020465 GWAS1116539_H FEV/FVC ratio QTL GWAS1116539 (human) 1e-11 FEV/FVC ratio forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606381 78606382 Human 597020464 GWAS1116538_H FEV/FVC ratio QTL GWAS1116538 (human) 2e-11 FEV/FVC ratio forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78618839 78618840 Human 597020723 GWAS1116797_H FEV/FVC ratio, response to bronchodilator QTL GWAS1116797 (human) 0.000003 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78618839 78618840 Human 597020466 GWAS1116540_H FEV/FVC ratio QTL GWAS1116540 (human) 9e-11 FEV/FVC ratio forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78601997 78601998 Human 407161827 GWAS810803_H FEV/FVC ratio, response to bronchodilator QTL GWAS810803 (human) 0.000006 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606661 78606662 Human 406953961 GWAS602937_H forced expiratory volume, response to bronchodilator QTL GWAS602937 (human) 0.0000004 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78600319 78600320 Human 406964971 GWAS613947_H forced expiratory volume, response to bronchodilator QTL GWAS613947 (human) 6e-10 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78611645 78611646 Human 597061948 GWAS1158022_H squamous cell lung carcinoma QTL GWAS1158022 (human) 3e-41 squamous cell lung carcinoma 15 78618839 78618840 Human 407234792 GWAS883768_H emphysema pattern measurement QTL GWAS883768 (human) 2e-17 emphysema pattern measurement 15 78606381 78606382 Human 407160554 GWAS809530_H FEV/FVC ratio, response to bronchodilator QTL GWAS809530 (human) 8e-17 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78608359 78608360 Human 406964975 GWAS613951_H forced expiratory volume, response to bronchodilator QTL GWAS613951 (human) 9e-10 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78620601 78620602 Human 407160564 GWAS809540_H FEV/FVC ratio, response to bronchodilator QTL GWAS809540 (human) 2e-16 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78613835 78613836 Human 597020453 GWAS1116527_H forced expiratory volume QTL GWAS1116527 (human) 4e-11 forced expiratory volume forced expiratory volume (CMO:0000254) 15 78618839 78618840 Human 597020455 GWAS1116529_H forced expiratory volume QTL GWAS1116529 (human) 2e-09 forced expiratory volume forced expiratory volume (CMO:0000254) 15 78601997 78601998 Human 406964979 GWAS613955_H forced expiratory volume, response to bronchodilator QTL GWAS613955 (human) 3e-14 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78603787 78603788 Human 597020454 GWAS1116528_H forced expiratory volume QTL GWAS1116528 (human) 2e-10 forced expiratory volume forced expiratory volume (CMO:0000254) 15 78606381 78606382 Human 597173292 GWAS1269366_H cigarettes per day measurement QTL GWAS1269366 (human) 1e-15 cigarettes per day measurement 15 78600171 78600172 Human 597213486 GWAS1309560_H lung carcinoma QTL GWAS1309560 (human) 3e-52 lung carcinoma 15 78601997 78601998 Human 407023861 GWAS672837_H lung carcinoma QTL GWAS672837 (human) 1e-15 lung carcinoma 15 78601997 78601998 Human 597589798 GWAS1646658_H atherosclerosis QTL GWAS1646658 (human) 1e-12 atherosclerosis 15 78606381 78606382 Human 597098541 GWAS1194615_H schizophrenia QTL GWAS1194615 (human) 1e-12 schizophrenia 15 78616223 78616224 Human 406970621 GWAS619597_H forced expiratory volume, response to bronchodilator QTL GWAS619597 (human) 2e-15 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78601997 78601998 Human 597333030 GWAS1429104_H cigarettes per day measurement QTL GWAS1429104 (human) 5e-22 cigarettes per day measurement 15 78604205 78604206 Human 597101866 GWAS1197940_H schizophrenia, intelligence, self reported educational attainment QTL GWAS1197940 (human) 5e-12 schizophrenia, intelligence, self reported educational attainment 15 78617925 78617926 Human 407066499 GWAS715475_H obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS715475 (human) 6e-12 obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa 15 78616223 78616224 Human 597093718 GWAS1189792_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189792 (human) 0.0000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78618121 78618122 Human 597020500 GWAS1116574_H forced expiratory volume, response to bronchodilator QTL GWAS1116574 (human) 2e-17 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78606590 78606591 Human 597614175 GWAS1671035_H family history of lung cancer QTL GWAS1671035 (human) 3e-15 family history of lung cancer 15 78618839 78618840 Human 597094740 GWAS1190814_H emphysema imaging measurement QTL GWAS1190814 (human) 2e-09 emphysema imaging measurement 15 78606590 78606591 Human 406965126 GWAS614102_H forced expiratory volume, response to bronchodilator QTL GWAS614102 (human) 4e-10 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78606871 78606872 Human 597020498 GWAS1116572_H forced expiratory volume, response to bronchodilator QTL GWAS1116572 (human) 2e-15 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78613835 78613836 Human 597590868 GWAS1647728_H peripheral vascular disease QTL GWAS1647728 (human) 6e-17 peripheral vascular disease 15 78606381 78606382 Human 597158748 GWAS1254822_H peripheral arterial disease QTL GWAS1254822 (human) 9e-09 peripheral arterial disease 15 78601997 78601998 Human 597061700 GWAS1157774_H schizophrenia QTL GWAS1157774 (human) 1e-12 schizophrenia 15 78602417 78602418 Human 597091908 GWAS1187982_H forced expiratory volume, response to bronchodilator QTL GWAS1187982 (human) 0.000005 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78606590 78606591 Human 597037381 GWAS1133455_H parental longevity QTL GWAS1133455 (human) 1e-26 total life span (VT:0001661) 15 78603787 78603788 Human 597596493 GWAS1653353_H chronic lung disease QTL GWAS1653353 (human) 3e-73 chronic lung disease 15 78618839 78618840 Human 597091904 GWAS1187978_H forced expiratory volume, response to bronchodilator QTL GWAS1187978 (human) 0.000005 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78619330 78619331 Human 597159245 GWAS1255319_H peripheral arterial disease QTL GWAS1255319 (human) 1e-08 peripheral arterial disease 15 78601997 78601998 Human 597093196 GWAS1189270_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189270 (human) 3e-18 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78608566 78608567 Human 597080396 GWAS1176470_H bipolar disorder QTL GWAS1176470 (human) 3e-08 bipolar disorder 15 78616223 78616224 Human 597159244 GWAS1255318_H peripheral arterial disease QTL GWAS1255318 (human) 9e-10 peripheral arterial disease 15 78599285 78599286 Human 406954138 GWAS603114_H forced expiratory volume, response to bronchodilator QTL GWAS603114 (human) 0.0000002 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78618120 78618121 Human 597093195 GWAS1189269_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189269 (human) 1e-19 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78606661 78606662 Human 597073014 GWAS1169088_H schizophrenia QTL GWAS1169088 (human) 2e-10 schizophrenia 15 78617916 78617917 Human 597213304 GWAS1309378_H schizophrenia QTL GWAS1309378 (human) 4e-10 schizophrenia 15 78617916 78617917 Human 597094772 GWAS1190846_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190846 (human) 0.000002 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78616728 78616729 Human 597590907 GWAS1647767_H peripheral vascular disease QTL GWAS1647767 (human) 2e-16 peripheral vascular disease 15 78606381 78606382 Human 597096563 GWAS1192637_H bipolar disorder QTL GWAS1192637 (human) 8e-09 bipolar disorder 15 78616223 78616224 Human 407025317 GWAS674293_H smoking behavior QTL GWAS674293 (human) 2e-69 smoking behavior 15 78601997 78601998 Human 597117040 GWAS1213114_H diffusing capacity of the lung for carbon monoxide QTL GWAS1213114 (human) 3e-10 diffusing capacity of the lung for carbon monoxide 15 78608305 78608306 Human 597094769 GWAS1190843_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190843 (human) 0.000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78615314 78615315 Human 407055786 GWAS704762_H chronic obstructive pulmonary disease QTL GWAS704762 (human) 3e-26 lung integrity trait (VT:0010906) 15 78606590 78606591 Human 597049981 GWAS1146055_H pulmonary function measurement QTL GWAS1146055 (human) 3e-11 pulmonary function measurement forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78618839 78618840 Human 407162536 GWAS811512_H FEV/FVC ratio, response to bronchodilator QTL GWAS811512 (human) 0.0000001 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78611645 78611646 Human 406969263 GWAS618239_H forced expiratory volume, response to bronchodilator QTL GWAS618239 (human) 5e-10 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78604205 78604206 Human 406969262 GWAS618238_H forced expiratory volume, response to bronchodilator QTL GWAS618238 (human) 4e-10 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78607377 78607378 Human 597094777 GWAS1190851_H FEV/FVC ratio, response to bronchodilator QTL GWAS1190851 (human) 0.0000008 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78615668 78615669 Human 597590894 GWAS1647754_H pneumonia QTL GWAS1647754 (human) 1e-15 pneumonia 15 78606381 78606382 Human 406973875 GWAS622851_H forced expiratory volume, response to bronchodilator QTL GWAS622851 (human) 0.0000002 forced expiratory volume, response to bronchodilator forced expiratory volume (CMO:0000254) 15 78618121 78618122 Human 406961844 GWAS610820_H chronic obstructive pulmonary disease QTL GWAS610820 (human) 6e-14 lung integrity trait (VT:0010906) 15 78606381 78606382 Human 597093475 GWAS1189549_H FEV/FVC ratio, response to bronchodilator QTL GWAS1189549 (human) 9e-12 FEV/FVC ratio, response to bronchodilator forced expiratory volume to forced vital capacity ratio (CMO:0000241) 15 78618839 78618840 Human 597123949 GWAS1220023_H smoking status measurement, chronic obstructive pulmonary disease QTL GWAS1220023 (human) 3e-25 lung integrity trait (VT:0010906) 15 78603787 78603788 Human 406961851 GWAS610827_H chronic obstructive pulmonary disease QTL GWAS610827 (human) 3e-16 lung integrity trait (VT:0010906) 15 78606381 78606382 Human 597211492 GWAS1307566_H lung carcinoma QTL GWAS1307566 (human) 3e-49 lung carcinoma 15 78601997 78601998 Human 407020732 GWAS669708_H lung adenocarcinoma QTL GWAS669708 (human) 2e-51 lung adenocarcinoma 15 78601997 78601998 Human 407020477 GWAS669453_H nicotine dependence QTL GWAS669453 (human) 6e-20 nicotine dependence 15 78601997 78601998 Human
SHGC-36097
Human Assembly Chr Position (strand) Source JBrowse GRCh37 15 78,887,664 - 78,887,761 UniSTS GRCh37 Build 36 15 76,674,719 - 76,674,816 RGD NCBI36 Celera 15 55,823,977 - 55,824,078 RGD Cytogenetic Map 15 q24 UniSTS HuRef 15 55,644,753 - 55,644,854 UniSTS Stanford-G3 RH Map 15 2795.0 UniSTS NCBI RH Map 15 508.7 UniSTS GeneMap99-G3 RH Map 15 2790.0 UniSTS
RH98633
Human Assembly Chr Position (strand) Source JBrowse GRCh37 15 78,914,657 - 78,914,798 UniSTS GRCh37 Build 36 15 76,701,712 - 76,701,853 RGD NCBI36 Celera 15 55,850,922 - 55,851,063 RGD Cytogenetic Map 15 q24 UniSTS HuRef 15 55,672,524 - 55,672,665 UniSTS GeneMap99-GB4 RH Map 15 273.83 UniSTS
RH121399
Human Assembly Chr Position (strand) Source JBrowse GRCh37 15 78,911,687 - 78,911,998 UniSTS GRCh37 Build 36 15 76,698,742 - 76,699,053 RGD NCBI36 Celera 15 55,847,955 - 55,848,266 RGD Cytogenetic Map 15 q24 UniSTS HuRef 15 55,669,565 - 55,669,876 UniSTS TNG Radiation Hybrid Map 15 30760.0 UniSTS
CHRNA3_541
Human Assembly Chr Position (strand) Source JBrowse GRCh37 15 78,887,550 - 78,888,396 UniSTS GRCh37 Build 36 15 76,674,605 - 76,675,451 RGD NCBI36 Celera 15 55,823,863 - 55,824,713 RGD HuRef 15 55,644,639 - 55,645,489 UniSTS
CHRNA5_1914
Human Assembly Chr Position (strand) Source JBrowse GRCh37 15 78,885,703 - 78,886,553 UniSTS GRCh37 Build 36 15 76,672,758 - 76,673,608 RGD NCBI36 Celera 15 55,822,016 - 55,822,866 RGD HuRef 15 55,642,792 - 55,643,642 UniSTS
STS-M83712
Human Assembly Chr Position (strand) Source JBrowse GRCh37 15 78,885,463 - 78,885,618 UniSTS GRCh37 Build 36 15 76,672,518 - 76,672,673 RGD NCBI36 Celera 15 55,821,776 - 55,821,931 RGD Cytogenetic Map 15 q24 UniSTS HuRef 15 55,642,552 - 55,642,707 UniSTS GeneMap99-GB4 RH Map 15 273.04 UniSTS NCBI RH Map 15 516.2 UniSTS
CHRNA3
Human Assembly Chr Position (strand) Source JBrowse GRCh37 15 78,893,679 - 78,893,924 UniSTS GRCh37 Build 36 15 76,680,734 - 76,680,979 RGD NCBI36 Celera 15 55,829,993 - 55,830,238 RGD HuRef 15 55,651,552 - 55,651,797 UniSTS
Click on a value in the shaded box below the category label to view a detailed expression data table for that system.
alimentary part of gastrointestinal system
entire extraembryonic component
1075
2394
2451
1881
4855
1417
1985
2
336
1479
183
2157
5972
5487
42
3577
679
1682
1535
164
1
Too many to show, limit is 500. Download them if you would like to view them all.
Ensembl Acc Id:
ENST00000326828 ⟹ ENSP00000315602
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,595,309 - 78,620,996 (-) Ensembl
Ensembl Acc Id:
ENST00000348639 ⟹ ENSP00000267951
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,593,052 - 78,621,295 (-) Ensembl
Ensembl Acc Id:
ENST00000558903
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,601,776 - 78,607,524 (-) Ensembl
Ensembl Acc Id:
ENST00000559002
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,593,052 - 78,596,732 (-) Ensembl
Ensembl Acc Id:
ENST00000559080 ⟹ ENSP00000453993
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,618,630 - 78,619,278 (-) Ensembl
Ensembl Acc Id:
ENST00000559658 ⟹ ENSP00000452896
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,593,052 - 78,620,863 (-) Ensembl
Ensembl Acc Id:
ENST00000559941
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,618,849 - 78,620,261 (-) Ensembl
Ensembl Acc Id:
ENST00000561128
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38.p14 Ensembl 15 78,618,380 - 78,620,789 (-) Ensembl
RefSeq Acc Id:
NM_000743 ⟹ NP_000734
RefSeq Status:
REVIEWED
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38 15 78,595,309 - 78,620,996 (-) NCBI GRCh37 15 78,885,394 - 78,913,637 (-) ENTREZGENE Build 36 15 76,674,706 - 76,700,377 (-) NCBI Archive HuRef 15 55,642,483 - 55,671,504 (-) ENTREZGENE CHM1_1 15 79,006,215 - 79,032,196 (-) NCBI T2T-CHM13v2.0 15 76,457,978 - 76,484,482 (-) NCBI
Sequence:
ACTCCGGATGGTTCCTGTCCTCCCGCGGGTCCGAGGGCGCTGGAAACCCAGCGGCGGCGAAGCGGAGAGGAGCCCCGCGCGTCTCCGCCCGCACGGCTCCAGGTCTGGGGTCTGCGCTGGAGCCGCGC
hide sequence
RefSeq Acc Id:
NM_001166694 ⟹ NP_001160166
RefSeq Status:
REVIEWED
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38 15 78,593,052 - 78,620,996 (-) NCBI GRCh37 15 78,885,394 - 78,913,637 (-) ENTREZGENE HuRef 15 55,642,483 - 55,671,504 (-) ENTREZGENE CHM1_1 15 79,003,962 - 79,032,196 (-) NCBI T2T-CHM13v2.0 15 76,455,721 - 76,484,482 (-) NCBI
Sequence:
ACTCCGGATGGTTCCTGTCCTCCCGCGGGTCCGAGGGCGCTGGAAACCCAGCGGCGGCGAAGCGGAGAGGAGCCCCGCGCGTCTCCGCCCGCACGGCTCCAGGTCTGGGGTCTGCGCTGGAGCCGCGC
hide sequence
RefSeq Acc Id:
NR_046313
RefSeq Status:
REVIEWED
Type:
NON-CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38 15 78,593,052 - 78,620,996 (-) NCBI GRCh37 15 78,885,394 - 78,913,637 (-) NCBI HuRef 15 55,642,483 - 55,671,504 (-) NCBI CHM1_1 15 79,003,962 - 79,032,196 (-) NCBI T2T-CHM13v2.0 15 76,455,721 - 76,484,482 (-) NCBI
Sequence:
ACTCCGGATGGTTCCTGTCCTCCCGCGGGTCCGAGGGCGCTGGAAACCCAGCGGCGGCGAAGCGGAGAGGAGCCCCGCGCGTCTCCGCCCGCACGGCTCCAGGTCTGGGGTCTGCGCTGGAGCCGCGC
hide sequence
RefSeq Acc Id:
XM_006720382 ⟹ XP_006720445
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source GRCh38 15 78,595,309 - 78,620,363 (-) NCBI
Sequence:
AAGAGGGGAGTCGCTTCGGGACTGGGGCTGGAGCTGGAGCGCCAGCCTCTCCTCCGGTTGTAGCCTCCTAGCGCTCCTGGCTGCGTCGCTGAGGGACCCTCCACCGGGAGAGCGCCTCCTGTCTTCCT
hide sequence
RefSeq Acc Id:
XM_054377228 ⟹ XP_054233203
Type:
CODING
Position:
Human Assembly Chr Position (strand) Source T2T-CHM13v2.0 15 76,457,978 - 76,483,804 (-) NCBI
RefSeq Acc Id:
NP_001160166 ⟸ NM_001166694
- Peptide Label:
isoform 2 precursor
- Sequence:
MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAV
hide sequence
RefSeq Acc Id:
NP_000734 ⟸ NM_000743
- Peptide Label:
isoform 1 precursor
- UniProtKB:
Q9BQ93 (UniProtKB/Swiss-Prot), Q99553 (UniProtKB/Swiss-Prot), Q96RH3 (UniProtKB/Swiss-Prot), Q86U77 (UniProtKB/Swiss-Prot), Q4KMN8 (UniProtKB/Swiss-Prot), Q15823 (UniProtKB/Swiss-Prot), Q9BRR4 (UniProtKB/Swiss-Prot), P32297 (UniProtKB/Swiss-Prot)
- Sequence:
MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPVIIHFEVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAV
hide sequence
RefSeq Acc Id:
XP_006720445 ⟸ XM_006720382
- Peptide Label:
isoform X1
- Sequence:
MSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPDIVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSWSYDKAKIDLVLIGSS
hide sequence
Ensembl Acc Id:
ENSP00000267951 ⟸ ENST00000348639
Ensembl Acc Id:
ENSP00000452896 ⟸ ENST00000559658
Ensembl Acc Id:
ENSP00000453993 ⟸ ENST00000559080
Ensembl Acc Id:
ENSP00000315602 ⟸ ENST00000326828
RefSeq Acc Id:
XP_054233203 ⟸ XM_054377228
- Peptide Label:
isoform X1
RGD ID: 6792236 Promoter ID: HG_KWN:22047 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: Jurkat Transcripts: ENST00000326858 Position: Human Assembly Chr Position (strand) Source Build 36 15 76,680,981 - 76,681,481 (-) MPROMDB
RGD ID: 7230247 Promoter ID: EPDNEW_H20869 Type: initiation region Name: CHRNA3_1 Description: cholinergic receptor nicotinic alpha 3 subunit SO ACC ID: SO:0000170 Source: EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/ ) Alternative Promoters: null; see alsoEPDNEW_H20870 Experiment Methods: Single-end sequencing. Position: Human Assembly Chr Position (strand) Source GRCh38 15 78,620,996 - 78,621,056 EPDNEW
RGD ID: 7230249 Promoter ID: EPDNEW_H20870 Type: initiation region Name: CHRNA3_2 Description: cholinergic receptor nicotinic alpha 3 subunit SO ACC ID: SO:0000170 Source: EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/ ) Alternative Promoters: null; see alsoEPDNEW_H20869 Experiment Methods: Single-end sequencing. Position: Human Assembly Chr Position (strand) Source GRCh38 15 78,621,279 - 78,621,339 EPDNEW
Date
Current Symbol
Current Name
Previous Symbol
Previous Name
Description
Reference
Status
2016-02-10
CHRNA3
cholinergic receptor nicotinic alpha 3 subunit
cholinergic receptor, nicotinic alpha 3
Symbol and/or name change
5135510 APPROVED
2015-12-08
CHRNA3
cholinergic receptor, nicotinic alpha 3
cholinergic receptor, nicotinic, alpha 3
Symbol and/or name change
5135510 APPROVED
2015-11-10
CHRNA3
cholinergic receptor, nicotinic, alpha 3
cholinergic receptor, nicotinic, alpha 3 (neuronal)
Symbol and/or name change
5135510 APPROVED
2012-02-14
CHRNA3
cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA3
cholinergic receptor, nicotinic, alpha 3
Symbol and/or name change
5135510 APPROVED
