rs141952919 Rat Genome Database

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Variant: rs141952919 -  Homo sapiens

RGD ID: 9688507
RS ID: rs141952919
ClinVar ID: CV174156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC26A5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 103,061,825
GRCh38 7 103,421,378
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_023055.1:g.29800T>C
NC_000007.14:g.103421378A>G
NC_000007.13:g.103061825A>G
NP_996766.1:p.Leu46Pro
More... 		09/17/2021 missense variant|non-coding transcript variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; SLC26A5-related condition
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV174156Humanautosomal recessive nonsyndromic deafness 61  IAGP 8554872ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61ClinVarPMID:24033266|PMID:25741868|PMID:28492532
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV174156HumanHearing Loss  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:34737426
CV174156HumanPresbycusis  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:34108613

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV174156HumanHearing impairment  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:34737426
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV174156Humanage-related hearing impairment  IAGP 405850206 GWAS_CATALOGPMID:34108613
CV174156Humanhearing loss  IAGP 405850206 GWAS_CATALOGPMID:34737426
CV174156Humannormal  IAGP 405850206 GWAS_CATALOGPMID:34737426
Data has come from the GWAS Catalog   
QTL
GWAS Catalog Study
Disease Trait
Study Size
Risk Allele
Risk Allele Frequency
P Value
P Value MLOG
Peak Marker
Reported Odds Ratio or Beta-coefficient
Ontology Accession
PubMed
GWAS1317239_H GCST012442 Age-related hearing impairment 121,934 European ancestry cases, 591,699 European ancestry controls G 0.52 2E-13 12.699 rs141952919 1.28 age-related hearing impairment (EFO:0005782)
 PMID:34108613
GWAS1353939_H GCST90042881 Hearing difficulty/problems: No (UKB data field 2247_0) 323,343 European ancestry cases, 114,424 European ancestry controls G 0.006275 1E-11 11 rs141952919 0.23 PMID:34737426
None Available GCST90042882 Hearing difficulty/problems: Yes (UKB data field 2247_1) 114,318 European ancestry cases, 323,449 European ancestry controls G 0.005044 1E-11 11 rs141952919 0.23 hearing loss (EFO:0004238)
 PMID:34737426
GWAS1371201_H GCST90132907 Hearing loss 125,749 European ancestry cases, 469,497 European ancestry controls ? NR 3E-14 13.523 rs141952919 1.297 age-related hearing impairment (EFO:0005782)
 PMID:35661827
GWAS1427846_H GCST90044775 Hearing difficulty 91,080 European ancestry cases, 257,037 European ancestry controls ? NR 3E-11 10.523 rs141952919 N/A hearing loss (EFO:0004238)
 PMID:34847940

Gene Symbol:SLC26A5
Accession:NM_206885
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGFHTEMTRRWRP*

Gene Symbol:SLC26A5
Accession:NM_206883
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRS
LVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSL
FLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKT
GVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVH
TVILDFTQVNFIDSVGVKTLAGIVKEYGDVGIYVYLAGCSAFIQR*

Gene Symbol:SLC26A5
Accession:NM_206884
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRS
LVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSL
FLGLDYGLITAVIIALLTVIYRTQSFHTEMTRRWRP*

Gene Symbol:SLC26A5
Accession:NM_001167962
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRS
LVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLG
KLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATV
VKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVHTVILDFTQVNFIDSVGVKTLAGIVKEYGDVGI
YVYLAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALAEQEASAPPSQEDLEPNATPATPEA*

Gene Symbol:SLC26A5
Accession:NM_198999
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRS
LVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSL
FLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKT
GVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVH
TVILDFTQVNFIDSVGVKTLAGIVKEYGDVGIYVYLAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALA
EQEASAPPSQEDLEPNATPATPEA*

Gene Symbol:SLC26A5
Accession:XM_011516170
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRS
LVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSL
FLGLDYGLITAVIIALLTVIYRTQSPSYKVLGKLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKT
GVNPAVIMGARRKAMRKYAKEVGNANMANATVVKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVH
TVILDFTQVNFIDSVGVKTLAGIVKEYGDVGIYVYLAGCSAQVVNDLTRNRFFENPALWELLFHSIHDAVLGSQLREALA
EQEASAPPSQEDLEPNATPATPEA*

Gene Symbol:SLC26A5
Accession:NM_001321787
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRS
LVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQTIWLTTFVSSLFLGLDYGLITAVIIALLTVIYRTQSPSYKVLG
KLPETDVYIDIDAYEEVKEIPGIKIFQINAPIYYANSDLYSNALKRKTGVNPAVIMGARRKAMRKYAKEVGNANMANATV
VKADAEVDGEDATKPEEEDGEVKYPPIVIKSTFPEEMQRFMPPGDNVHTVILDFTQVNFIDSVGVKTLAGIVKEYGDVGI
YVYLAGCSAFIQR*

Gene Symbol:SLC26A5
Accession:XM_047420347
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHAEENEILAATQRYYVERPIFSHPVLQERLHTKDKVPDSIADKPKQAFTCTPKKIRNIIYMFLPITKWLPAYKFKEYV
LGDLVSGISTGVLQLPQGLAFAMLAAVPPIFGLYSSFYPVIMYCFLGTSRHISIGPFAVISLMIGGVAVRLVPDDIVIPG
GVNATNGTEARDALRVKVAMSVTLLSGIIQFCLGVCRFGFVAIYLTEPLVRGFTTAAAVHVFTSMLKYLFGVKTKRYSGI
FSVVYSTVAVLQNVKNLNVCSLGVGLMVFGLLLGGKEFNERFKEKLPAPIPLEFFAVVMGTGISAGFNLKESYNVDVVGT
LPLGLLPPANPDTSLFHLVYVDAIAIAIVGFSVTISMAKTLANKHGYQVDGNQELIALGLCNSIGSLFQTFSISCSLSRS
LVQEGTGGKTQLAGCLASLMILLVILATGFLFESLPQAVLSAIVIVNLKGMFMQFSDLPFFWRTSKIELTIWLTTFVSSL
FLGLDYGLITAVIIALLTVIYRTQR*

Gene Symbol:SLC26A5
Accession:NR_120442
Location:EXON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_120443
Location:EXON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_120441
Location:EXON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_135802
Location:EXON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_135801
Location:EXON;NON-CODING

Gene Symbol:SLC26A5
Accession:XR_007060034
Location:EXON;NON-CODING

.
PMID:24033266   PMID:25741868   PMID:28492532  



1 to 14 of 14 rows
Database
Acc Id
Source(s)
ClinVar RCV000151914 CLINVAR
  RCV000971218 CLINVAR
  RCV000999789 CLINVAR
  RCV003927467 CLINVAR
dbSNP (RS) rs141952919 CLINVAR
GWAS Catalog GCST012442 GWAS Catalog
  GCST90042881 GWAS Catalog
  GCST90042882 GWAS Catalog
MedGen C3151230 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC26A5 CLINVAR
OMIM 604943 CLINVAR
  613865 CLINVAR
1 to 14 of 14 rows