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Gene: LOC105376196 (uncharacterized LOC105376196) Homo sapiens

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Symbol:

LOC105376196

Name:

uncharacterized LOC105376196

RGD ID:

38603933

Description:

ASSOCIATED WITH primary hypoalphalipoproteinemia 1; Tangier disease

Type:

ncrna

RefSeq Status:

VALIDATED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	104,926,789 - 104,939,091 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	9	107,689,070 - 107,701,372 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	9	q31.1	NCBI
CHM1_1	9	107,836,888 - 107,848,192 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	117,101,613 - 117,113,909 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View


primary hypoalphalipoproteinemia 1 (IAGP)	Tangier disease (IAGP)

References

Genomics

Variants

Variants in LOC105376196
33 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005502.3(ABCA1):c.-327C>T	single nucleotide variant	Familial High Density Lipoprotein Deficiency [RCV000332240]\|Tangier disease [RCV000274172]\|not provided [RCV001618666]	Chr9:104928169 [GRCh38] Chr9:104928169..104928170 [GRCh38] Chr9:107690450 [GRCh37] Chr9:107690450..107690451 [GRCh37] Chr9:9q31.1	benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	copy number loss	See cases [RCV000134976]	Chr9:103767420..112984794 [GRCh38] Chr9:106529701..115747074 [GRCh37] Chr9:105569522..114786895 [NCBI36] Chr9:9q31.1-32	pathogenic
GRCh38/hg38 9q31.1(chr9:103006145-105161449)x1	copy number loss	See cases [RCV000135554]	Chr9:103006145..105161449 [GRCh38] Chr9:105768427..107923730 [GRCh37] Chr9:104808248..106963551 [NCBI36] Chr9:9q31.1	uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	copy number loss	See cases [RCV000050315]	Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
NM_005502.4(ABCA1):c.-141C>G	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000404376]\|Tangier disease [RCV000337555]	Chr9:104927983 [GRCh38] Chr9:107690264 [GRCh37] Chr9:9q31.1	uncertain significance
NM_005502.4(ABCA1):c.-289G>T	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000309317]\|Tangier disease [RCV000366424]	Chr9:104928131 [GRCh38] Chr9:107690412 [GRCh37] Chr9:9q31.1	uncertain significance
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	copy number gain	See cases [RCV000136788]	Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2	pathogenic
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	copy number gain	See cases [RCV000139789]	Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3	pathogenic
GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3	copy number gain	See cases [RCV000140793]	Chr9:104810184..107473921 [GRCh38] Chr9:107572465..110236202 [GRCh37] Chr9:106612286..109276023 [NCBI36] Chr9:9q31.1-31.2	uncertain significance
NM_005502.3(ABCA1):c.-343A>C	single nucleotide variant	Familial High Density Lipoprotein Deficiency [RCV000259385]\|Tangier disease [RCV000389148]	Chr9:104928185 [GRCh38] Chr9:107690466 [GRCh37] Chr9:9q31.1	uncertain significance
NM_005502.4(ABCA1):c.-114C>G	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000383074]\|Tangier disease [RCV000272174]	Chr9:104927956 [GRCh38] Chr9:107690237 [GRCh37] Chr9:9q31.1	uncertain significance
NM_005502.4(ABCA1):c.-138G>A	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000387538]\|Tangier disease [RCV000329640]	Chr9:104927980 [GRCh38] Chr9:107690261 [GRCh37] Chr9:9q31.1	uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	copy number loss	See cases [RCV000148264]	Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1	pathogenic
NM_005502.4(ABCA1):c.-93+92T>C	single nucleotide variant	not provided [RCV001709295]	Chr9:104927843 [GRCh38] Chr9:107690124 [GRCh37] Chr9:9q31.1	benign
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	copy number gain	See cases [RCV000053752]	Chr9:88522292..113687796 [GRCh38] Chr9:91137207..116450076 [GRCh37] Chr9:90327027..115489897 [NCBI36] Chr9:9q22.1-32	pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	copy number loss	See cases [RCV000052921]	Chr9:99349916..115767475 [GRCh38] Chr9:102112198..118529754 [GRCh37] Chr9:101152019..117569575 [NCBI36] Chr9:9q22.33-33.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
NM_005502.4(ABCA1):c.-281C>A	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV001165592]\|Tangier disease [RCV001165591]	Chr9:104928123 [GRCh38] Chr9:107690404 [GRCh37] Chr9:9q31.1	uncertain significance
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	copy number loss	See cases [RCV000134375]	Chr9:95061030..108695569 [GRCh38] Chr9:97823312..111457849 [GRCh37] Chr9:96863133..110497670 [NCBI36] Chr9:9q22.32-31.3	pathogenic
NM_005502.4(ABCA1):c.-188G>C	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV001169568]\|Tangier disease [RCV001169567]	Chr9:104928030 [GRCh38] Chr9:107690311 [GRCh37] Chr9:9q31.1	uncertain significance
NM_005502.4(ABCA1):c.-223C>A	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000305667]\|Tangier disease [RCV000395008]	Chr9:104928065 [GRCh38] Chr9:107690346 [GRCh37] Chr9:9q31.1	uncertain significance
GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	copy number loss	Weiss-Kruszka syndrome [RCV003327720]	Chr9:102995214..108903040 [GRCh38] Chr9:9q31.1-31.3	pathogenic
NM_005502.4(ABCA1):c.-93+13C>G	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV001167123]\|Tangier disease [RCV001167124]	Chr9:104927922 [GRCh38] Chr9:107690203 [GRCh37] Chr9:9q31.1	uncertain significance
GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3	copy number gain	See cases [RCV000143264]	Chr9:104036284..105935181 [GRCh38] Chr9:106798565..108697462 [GRCh37] Chr9:105838386..107737283 [NCBI36] Chr9:9q31.1-31.2	uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
NC_000009.12:g.104928254G>C	single nucleotide variant	Familial High Density Lipoprotein Deficiency [RCV000334253]\|Tangier disease [RCV000388767]\|not provided [RCV001683470]	Chr9:104928254 [GRCh38] Chr9:107690535 [GRCh37] Chr9:9q31.1	benign
NM_005502.4(ABCA1):c.-205G>T	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000340789]\|Tangier disease [RCV000302583]	Chr9:104928047 [GRCh38] Chr9:107690328 [GRCh37] Chr9:9q31.1	benign\|likely benign\|uncertain significance
NM_005502.4(ABCA1):c.-139T>C	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000352850]\|Tangier disease [RCV000295537]	Chr9:104927981 [GRCh38] Chr9:107690262 [GRCh37] Chr9:9q31.1	uncertain significance
NM_005502.4(ABCA1):c.-279C>G	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000270608]\|Tangier disease [RCV000362743]	Chr9:104928121 [GRCh38] Chr9:107690402 [GRCh37] Chr9:9q31.1	benign\|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
NM_005502.4(ABCA1):c.-217A>G	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV001165590]\|Tangier disease [RCV001165589]	Chr9:104928059 [GRCh38] Chr9:107690340 [GRCh37] Chr9:9q31.1	benign
NM_005502.4(ABCA1):c.-194C>T	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV001169569]\|Tangier disease [RCV001169570]	Chr9:104928036 [GRCh38] Chr9:107690317 [GRCh37] Chr9:9q31.1	uncertain significance
NM_005502.4(ABCA1):c.-93+3A>G	single nucleotide variant	not provided [RCV003702744]	Chr9:104927932 [GRCh38] Chr9:107690213 [GRCh37] Chr9:9q31.1	likely benign
GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	copy number loss	See cases [RCV000138281]	Chr9:99024205..109947890 [GRCh38] Chr9:101786487..112710170 [GRCh37] Chr9:100826308..111749991 [NCBI36] Chr9:9q22.33-31.3	pathogenic\|likely pathogenic
NM_005502.4(ABCA1):c.-141C>T	single nucleotide variant	Hypoalphalipoproteinemia, primary, 1 [RCV000280107]\|Tangier disease [RCV000372508]	Chr9:104927983 [GRCh38] Chr9:107690264 [GRCh37] Chr9:9q31.1	uncertain significance

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597521821	GWAS1617895_H	urate measurement QTL GWAS1617895 (human)		7e-13	urate measurement	blood uric acid level (CMO:0000501)	9	104928169	104928170	Human
597203738	GWAS1299812_H	open-angle glaucoma QTL GWAS1299812 (human)		7e-27	open-angle glaucoma		9	104933258	104933259	Human
596955665	GWAS1075184_H	eye disease QTL GWAS1075184 (human)		6e-10	eye disease		9	104933567	104933568	Human
597343135	GWAS1439209_H	open-angle glaucoma QTL GWAS1439209 (human)		6e-43	open-angle glaucoma		9	104933567	104933568	Human
597427226	GWAS1523300_H	gout QTL GWAS1523300 (human)		6e-09	gout		9	104927776	104927777	Human
597245471	GWAS1341545_H	high density lipoprotein cholesterol measurement QTL GWAS1341545 (human)		3e-11	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	9	104936325	104936326	Human
597430932	GWAS1527006_H	urate measurement QTL GWAS1527006 (human)		4e-13	urate measurement	blood uric acid level (CMO:0000501)	9	104928169	104928170	Human
597389203	GWAS1485277_H	high density lipoprotein cholesterol measurement QTL GWAS1485277 (human)		0.000004	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	9	104928169	104928170	Human
597204500	GWAS1300574_H	open-angle glaucoma QTL GWAS1300574 (human)		2e-48	open-angle glaucoma		9	104933258	104933259	Human
406950733	GWAS599709_H	intraocular pressure measurement QTL GWAS599709 (human)		3e-11	intraocular pressure measurement		9	104933567	104933568	Human
406924239	GWAS573215_H	glaucoma QTL GWAS573215 (human)		1e-14	glaucoma		9	104930920	104930921	Human
597165846	GWAS1261920_H	open-angle glaucoma QTL GWAS1261920 (human)		1e-119	open-angle glaucoma		9	104933258	104933259	Human
597073688	GWAS1169762_H	intraocular pressure measurement QTL GWAS1169762 (human)		2e-40	intraocular pressure measurement		9	104933567	104933568	Human
597224072	GWAS1320146_H	BMI-adjusted waist circumference QTL GWAS1320146 (human)		4e-25	body size trait (VT:0100005)		9	104927071	104927072	Human
597224073	GWAS1320147_H	BMI-adjusted waist circumference QTL GWAS1320147 (human)		2e-08	body size trait (VT:0100005)		9	104932632	104932633	Human
597224074	GWAS1320148_H	BMI-adjusted waist circumference QTL GWAS1320148 (human)		8e-11	body size trait (VT:0100005)		9	104931964	104931965	Human
597224075	GWAS1320149_H	BMI-adjusted waist circumference QTL GWAS1320149 (human)		1e-09	body size trait (VT:0100005)		9	104938953	104938954	Human
597291919	GWAS1387993_H	eye disease QTL GWAS1387993 (human)		6e-10	eye disease		9	104933567	104933568	Human
597340417	GWAS1436491_H	open-angle glaucoma QTL GWAS1436491 (human)		7e-71	open-angle glaucoma		9	104933258	104933259	Human
406948954	GWAS597930_H	open-angle glaucoma QTL GWAS597930 (human)		2e-19	open-angle glaucoma		9	104933567	104933568	Human
597507456	GWAS1603530_H	urate measurement QTL GWAS1603530 (human)		8e-09	urate measurement	blood uric acid level (CMO:0000501)	9	104928169	104928170	Human
406960607	GWAS609583_H	intraocular pressure measurement QTL GWAS609583 (human)		3e-51	intraocular pressure measurement		9	104933567	104933568	Human
597620924	GWAS1677784_H	open-angle glaucoma QTL GWAS1677784 (human)		2e-47	open-angle glaucoma		9	104933072	104933073	Human
597307198	GWAS1403272_H	BMI-adjusted waist circumference QTL GWAS1403272 (human)		7e-22	body size trait (VT:0100005)		9	104927071	104927072	Human
597307199	GWAS1403273_H	BMI-adjusted waist circumference QTL GWAS1403273 (human)		6e-09	body size trait (VT:0100005)		9	104931964	104931965	Human
597245244	GWAS1341318_H	glaucoma QTL GWAS1341318 (human)		2e-18	glaucoma		9	104933567	104933568	Human
597519159	GWAS1615233_H	urate measurement QTL GWAS1615233 (human)		2e-10	urate measurement	blood uric acid level (CMO:0000501)	9	104928169	104928170	Human
597212466	GWAS1308540_H	intraocular pressure measurement QTL GWAS1308540 (human)		4e-50	intraocular pressure measurement		9	104933072	104933073	Human
597312944	GWAS1409018_H	Antiglaucoma preparations and miotics use measurement QTL GWAS1409018 (human)		3e-22	Antiglaucoma preparations and miotics use measurement		9	104933567	104933568	Human
597059003	GWAS1155077_H	open-angle glaucoma QTL GWAS1155077 (human)		6e-17	open-angle glaucoma		9	104933567	104933568	Human
596965050	GWAS1084569_H	glaucoma QTL GWAS1084569 (human)		1e-14	glaucoma		9	104930920	104930921	Human
597152807	GWAS1248881_H	BMI-adjusted waist-hip ratio QTL GWAS1248881 (human)		3e-11	body size trait (VT:0100005)		9	104936502	104936503	Human
597257640	GWAS1353714_H	BMI-adjusted waist-hip ratio QTL GWAS1353714 (human)		8e-14	body size trait (VT:0100005)		9	104929961	104929962	Human
597152806	GWAS1248880_H	BMI-adjusted waist-hip ratio QTL GWAS1248880 (human)		3e-14	body size trait (VT:0100005)		9	104929961	104929962	Human
597205929	GWAS1302003_H	open-angle glaucoma QTL GWAS1302003 (human)		2e-69	open-angle glaucoma		9	104933258	104933259	Human
597164457	GWAS1260531_H	glaucoma QTL GWAS1260531 (human)		1e-39	glaucoma		9	104933567	104933568	Human
597152805	GWAS1248879_H	BMI-adjusted waist-hip ratio QTL GWAS1248879 (human)		1e-08	body size trait (VT:0100005)		9	104938953	104938954	Human
597152804	GWAS1248878_H	BMI-adjusted waist-hip ratio QTL GWAS1248878 (human)		8e-19	body size trait (VT:0100005)		9	104931964	104931965	Human
597152803	GWAS1248877_H	BMI-adjusted waist-hip ratio QTL GWAS1248877 (human)		9e-12	body size trait (VT:0100005)		9	104932632	104932633	Human
597152802	GWAS1248876_H	BMI-adjusted waist-hip ratio QTL GWAS1248876 (human)		5e-35	body size trait (VT:0100005)		9	104927071	104927072	Human
597257634	GWAS1353708_H	BMI-adjusted waist-hip ratio QTL GWAS1353708 (human)		2e-34	body size trait (VT:0100005)		9	104927071	104927072	Human
597257637	GWAS1353711_H	BMI-adjusted waist-hip ratio QTL GWAS1353711 (human)		1e-18	body size trait (VT:0100005)		9	104931964	104931965	Human
597279013	GWAS1375087_H	BMI-adjusted hip circumference QTL GWAS1375087 (human)		2e-09	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	9	104931964	104931965	Human
597257636	GWAS1353710_H	BMI-adjusted waist-hip ratio QTL GWAS1353710 (human)		2e-11	body size trait (VT:0100005)		9	104932632	104932633	Human
597049003	GWAS1145077_H	intraocular pressure measurement QTL GWAS1145077 (human)		6e-59	intraocular pressure measurement		9	104933567	104933568	Human
597257639	GWAS1353713_H	BMI-adjusted waist-hip ratio QTL GWAS1353713 (human)		3e-08	body size trait (VT:0100005)		9	104938953	104938954	Human
597349337	GWAS1445411_H	glaucoma QTL GWAS1445411 (human)		1e-14	glaucoma		9	104930920	104930921	Human
597205211	GWAS1301285_H	open-angle glaucoma QTL GWAS1301285 (human)		2e-28	open-angle glaucoma		9	104933258	104933259	Human
597109844	GWAS1205918_H	Antiglaucoma preparations and miotics use measurement QTL GWAS1205918 (human)		8e-17	Antiglaucoma preparations and miotics use measurement		9	104933567	104933568	Human
597168860	GWAS1264934_H	glaucoma QTL GWAS1264934 (human)		2e-13	glaucoma		9	104933567	104933568	Human
597578715	GWAS1635575_H	glaucoma QTL GWAS1635575 (human)		2e-25	glaucoma		9	104930920	104930921	Human
597157074	GWAS1253148_H	open-angle glaucoma QTL GWAS1253148 (human)		2e-101	open-angle glaucoma		9	104933258	104933259	Human
597211486	GWAS1307560_H	glaucoma QTL GWAS1307560 (human)		4e-30	glaucoma		9	104933567	104933568	Human
597399379	GWAS1495453_H	uric acid measurement QTL GWAS1495453 (human)		3e-14	uric acid measurement	blood uric acid level (CMO:0000501)	9	104927776	104927777	Human
597045598	GWAS1141672_H	intraocular pressure measurement QTL GWAS1141672 (human)		6e-43	intraocular pressure measurement		9	104933258	104933259	Human
597058526	GWAS1154600_H	open-angle glaucoma QTL GWAS1154600 (human)		6e-29	open-angle glaucoma		9	104933567	104933568	Human
407132949	GWAS781925_H	intraocular pressure measurement QTL GWAS781925 (human)		5e-09	intraocular pressure measurement		9	104929542	104929543	Human
407132950	GWAS781926_H	intraocular pressure measurement QTL GWAS781926 (human)		5e-13	intraocular pressure measurement		9	104929542	104929543	Human
597590092	GWAS1646952_H	open-angle glaucoma QTL GWAS1646952 (human)		1e-45	open-angle glaucoma		9	104930920	104930921	Human
597059268	GWAS1155342_H	intraocular pressure measurement QTL GWAS1155342 (human)		1e-08	intraocular pressure measurement		9	104933567	104933568	Human
597205066	GWAS1301140_H	open-angle glaucoma QTL GWAS1301140 (human)		2e-29	intraocular pressure measurement		9	104933567	104933568	Human
597224266	GWAS1320340_H	BMI-adjusted waist circumference QTL GWAS1320340 (human)		6e-09	body size trait (VT:0100005)		9	104936331	104936332	Human
597224267	GWAS1320341_H	BMI-adjusted waist circumference QTL GWAS1320341 (human)		5e-11	body size trait (VT:0100005)		9	104929961	104929962	Human
597450314	GWAS1546388_H	urate measurement QTL GWAS1546388 (human)		7e-12	urate measurement	blood uric acid level (CMO:0000501)	9	104927776	104927777	Human
597477195	GWAS1573269_H	intraocular pressure measurement QTL GWAS1573269 (human)		7e-19	intraocular pressure measurement		9	104936915	104936916	Human
597620807	GWAS1677667_H	open-angle glaucoma QTL GWAS1677667 (human)		1e-36	open-angle glaucoma		9	104933072	104933073	Human
597307200	GWAS1403274_H	BMI-adjusted waist circumference QTL GWAS1403274 (human)		2e-08	body size trait (VT:0100005)		9	104936331	104936332	Human
597307201	GWAS1403275_H	BMI-adjusted waist circumference QTL GWAS1403275 (human)		5e-10	body size trait (VT:0100005)		9	104929961	104929962	Human
597211716	GWAS1307790_H	glaucoma QTL GWAS1307790 (human)		1e-29	glaucoma		9	104933072	104933073	Human
597617791	GWAS1674651_H	glaucoma QTL GWAS1674651 (human)		1e-40	glaucoma		9	104933072	104933073	Human
597238266	GWAS1334340_H	BMI-adjusted hip circumference QTL GWAS1334340 (human)		8e-09	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	9	104931964	104931965	Human
597116020	GWAS1212094_H	intraocular pressure measurement QTL GWAS1212094 (human)		3e-49	intraocular pressure measurement		9	104933258	104933259	Human
597251198	GWAS1347272_H	apolipoprotein A 1 measurement QTL GWAS1347272 (human)		3e-12	apolipoprotein A 1 measurement	blood apolipoprotein AI level (CMO:0000520)	9	104936325	104936326	Human
597427956	GWAS1524030_H	urate measurement QTL GWAS1524030 (human)		1e-14	urate measurement	blood uric acid level (CMO:0000501)	9	104928169	104928170	Human
597035647	GWAS1131721_H	glaucoma QTL GWAS1131721 (human)		2e-19	glaucoma		9	104933567	104933568	Human
597241075	GWAS1337149_H	eye disease QTL GWAS1337149 (human)		2e-11	eye disease		9	104933567	104933568	Human
407072814	GWAS721790_H	intraocular pressure measurement QTL GWAS721790 (human)		4e-11	intraocular pressure measurement		9	104933258	104933259	Human
597444850	GWAS1540924_H	BMI-adjusted waist-hip ratio QTL GWAS1540924 (human)		1e-12	body size trait (VT:0100005)		9	104937087	104937088	Human
597444851	GWAS1540925_H	BMI-adjusted waist-hip ratio QTL GWAS1540925 (human)		2e-11	body size trait (VT:0100005)		9	104935807	104935808	Human
597464556	GWAS1560630_H	BMI-adjusted waist-hip ratio QTL GWAS1560630 (human)		2e-12	body size trait (VT:0100005)		9	104928944	104928945	Human
597204328	GWAS1300402_H	open-angle glaucoma QTL GWAS1300402 (human)		1e-19	open-angle glaucoma		9	104933258	104933259	Human
597204712	GWAS1300786_H	low tension glaucoma QTL GWAS1300786 (human)		4e-13	low tension glaucoma		9	104933258	104933259	Human
597019108	GWAS1115182_H	open-angle glaucoma QTL GWAS1115182 (human)		2e-09	open-angle glaucoma		9	104933258	104933259	Human
597036004	GWAS1132078_H	glaucoma QTL GWAS1132078 (human)		8e-59	glaucoma		9	104933567	104933568	Human
597597801	GWAS1654661_H	glaucoma QTL GWAS1654661 (human)		3e-25	glaucoma		9	104930920	104930921	Human
597579111	GWAS1635971_H	drug use measurement, glaucoma QTL GWAS1635971 (human)		5e-27	drug use measurement, glaucoma		9	104930920	104930921	Human
597427047	GWAS1523121_H	gout QTL GWAS1523121 (human)		3e-13	gout		9	104927776	104927777	Human
597098860	GWAS1194934_H	glaucoma QTL GWAS1194934 (human)		1e-11	glaucoma		9	104933567	104933568	Human
597144298	GWAS1240372_H	low density lipoprotein cholesterol measurement QTL GWAS1240372 (human)		4e-11	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	9	104930223	104930224	Human
597597795	GWAS1654655_H	drug use measurement, glaucoma QTL GWAS1654655 (human)		3e-29	drug use measurement, glaucoma		9	104930920	104930921	Human
597161065	GWAS1257139_H	Antiglaucoma preparations and miotics use measurement QTL GWAS1257139 (human)		3e-08	Antiglaucoma preparations and miotics use measurement		9	104933258	104933259	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences


RefSeq Transcripts	NR_188620	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK311445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

NR_188620

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	104,926,789 - 104,939,091 (+)	NCBI
T2T-CHM13v2.0	9	117,101,613 - 117,113,909 (+)	NCBI

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	LOC105376196	COSMIC
GTEx	LOC105376196	GTEx
Human Proteome Map	LOC105376196	Human Proteome Map
NCBI Gene	LOC105376196	ENTREZGENE
RNAcentral	URS00026A222C	RNACentral

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar