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rs397516874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a recessive deafness mutation
Make rs397516874(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189212
GeneGJB2
is asnp
is mentioned by
dbSNPrs397516874
ebirs397516874
HLIrs397516874
Exacrs397516874
Varsomers397516874
Maprs397516874
PheGenIrs397516874
hapmaprs397516874
1000 genomesrs397516874
hgdprs397516874
ensemblrs397516874
gopubmedrs397516874
geneviewrs397516874
scholarrs397516874
googlers397516874
pharmgkbrs397516874
gwascentralrs397516874
openSNPrs397516874
23andMers397516874
23andMe allrs397516874
SNP Nexus

SNPshotrs397516874
SNPdbers397516874
MSV3drs397516874
GWAS Ctlgrs397516874
Max Magnitude3
ClinVar
Risk rs397516874(T;T)
Alt rs397516874(T;T)
Reference rs397516874(C;C)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763351G>A
CLNSRC ClinVar
CLNACC RCV000037846.4, RCV000211777.1,