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rs28929485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Deafness and keratitis; possible dominant or recessive
(G;G) 0
(T;T) 6 Deafness and keratitis; possible dominant or recessive
ReferenceGRCh38 38.1/141
Chromosome13
Position20189532
GeneGJB2
is asnp
is mentioned by
dbSNPrs28929485
ebirs28929485
HLIrs28929485
Exacrs28929485
Varsomers28929485
Maprs28929485
PheGenIrs28929485
hapmaprs28929485
1000 genomesrs28929485
hgdprs28929485
ensemblrs28929485
gopubmedrs28929485
geneviewrs28929485
scholarrs28929485
googlers28929485
pharmgkbrs28929485
gwascentralrs28929485
openSNPrs28929485
23andMers28929485
23andMe allrs28929485
SNP Nexus

SNPshotrs28929485
SNPdbers28929485
MSV3drs28929485
GWAS Ctlgrs28929485
Max Magnitude6

This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.

OMIM121011
DescKERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
Variant0022
Relatedalso
Neighborrs28931594
Distance98


ClinVar
Risk rs28929485(G,T;G,T)
Alt rs28929485(G,T;G,T)
Reference rs28929485(C;C)
Significance Pathogenic
Disease Keratitis-ichthyosis-deafness syndrome not specified
Variation info
Gene GJB2
CLNDBN Keratitis-ichthyosis-deafness syndrome, autosomal dominant not specified
Reversed 1
HGVS NC_000013.10:g.20763671G>A; NC_000013.10:g.20763671G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018549.29, RCV000156624.1,