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rs60284988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60284988(C;C)
Make rs60284988(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107660756
GeneLOC286002, SLC26A4
is asnp
is mentioned by
dbSNPrs60284988
ebirs60284988
HLIrs60284988
Exacrs60284988
Varsomers60284988
Maprs60284988
PheGenIrs60284988
hapmaprs60284988
1000 genomesrs60284988
hgdprs60284988
ensemblrs60284988
gopubmedrs60284988
geneviewrs60284988
scholarrs60284988
googlers60284988
pharmgkbrs60284988
gwascentralrs60284988
openSNPrs60284988
23andMers60284988
23andMe allrs60284988
SNP Nexus

SNPshotrs60284988
SNPdbers60284988
MSV3drs60284988
GWAS Ctlgrs60284988
Max Magnitude0
OMIM605646
Desc
Variant0027
Relatedalso


ClinVar
Risk rs60284988(C;C)
Alt rs60284988(C;C)
Reference rs60284988(T;T)
Significance Pathogenic
Disease Pendred's syndrome Enlarged vestibular aqueduct syndrome not specified
Variation info
Gene SLC26A4-AS1 SLC26A4
CLNDBN Pendred's syndrome Enlarged vestibular aqueduct syndrome not specified
Reversed 0
HGVS NC_000007.13:g.107301201T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005109.3, RCV000005110.3, RCV000154443.2,



[PMID 17503324OA-icon.png] Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

[PMID 19204907OA-icon.png] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

[PMID 19787632] The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?