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rs104894404

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6 Palmoplantar keratoderma with deafness
(G;G) 0 common in clinvar


Make rs104894404(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189406
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894404
ebirs104894404
HLIrs104894404
Exacrs104894404
Varsomers104894404
Maprs104894404
PheGenIrs104894404
hapmaprs104894404
1000 genomesrs104894404
hgdprs104894404
ensemblrs104894404
gopubmedrs104894404
geneviewrs104894404
scholarrs104894404
googlers104894404
pharmgkbrs104894404
gwascentralrs104894404
openSNPrs104894404
23andMers104894404
23andMe allrs104894404
SNP Nexus

SNPshotrs104894404
SNPdbers104894404
MSV3drs104894404
GWAS Ctlgrs104894404
Max Magnitude6
OMIM121011
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104894404(A,C;A,C)
Alt rs104894404(A,C;A,C)
Reference rs104894404(G;G)
Significance Pathogenic
Disease Keratoderma palmoplantar deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Keratoderma palmoplantar deafness Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763545C>G; NC_000013.10:g.20763545C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018540.28, RCV000150733.2,