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rs121912968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Palmoplantar keratoderma with deafness
Make rs121912968(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189364
GeneGJB2
is asnp
is mentioned by
dbSNPrs121912968
ebirs121912968
HLIrs121912968
Exacrs121912968
Varsomers121912968
Maprs121912968
PheGenIrs121912968
hapmaprs121912968
1000 genomesrs121912968
hgdprs121912968
ensemblrs121912968
gopubmedrs121912968
geneviewrs121912968
scholarrs121912968
googlers121912968
pharmgkbrs121912968
gwascentralrs121912968
openSNPrs121912968
23andMers121912968
23andMe allrs121912968
SNP Nexus

SNPshotrs121912968
SNPdbers121912968
MSV3drs121912968
GWAS Ctlgrs121912968
Max Magnitude6
OMIM121011
Desc
Variant0038
Relatedalso
ClinVar
Risk rs121912968(G;G)
Alt rs121912968(G;G)
Reference rs121912968(A;A)
Significance Pathogenic
Disease Keratoderma palmoplantar deafness
Variation info
Gene GJB2
CLNDBN Keratoderma palmoplantar deafness
Reversed 1
HGVS NC_000013.10:g.20763503T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018565.28,