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rs121908362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a Pendred Syndrome allele
(G;G) 5 Pendred Syndrome
ReferenceGRCh38 38.1/141
Chromosome7
Position107710132
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs121908362
ebirs121908362
HLIrs121908362
Exacrs121908362
Varsomers121908362
Maprs121908362
PheGenIrs121908362
hapmaprs121908362
1000 genomesrs121908362
hgdprs121908362
ensemblrs121908362
gopubmedrs121908362
geneviewrs121908362
scholarrs121908362
googlers121908362
pharmgkbrs121908362
gwascentralrs121908362
openSNPrs121908362
23andMers121908362
23andMe allrs121908362
SNP Nexus

SNPshotrs121908362
SNPdbers121908362
MSV3drs121908362
GWAS Ctlgrs121908362
GMAF0.0009183
Max Magnitude5

rs121908362, also known as H723R, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.

OMIM605646
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908362(G;G)
Alt rs121908362(G;G)
Reference rs121908362(A;A)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107350577A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005094.4, RCV000005095.3, RCV000036477.2,