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rs879253741

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253741(G;T)
Make rs879253741(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position20189516
GeneGJB2
is asnp
is mentioned by
dbSNPrs879253741
ebirs879253741
HLIrs879253741
Exacrs879253741
Varsomers879253741
Maprs879253741
PheGenIrs879253741
hapmaprs879253741
1000 genomesrs879253741
hgdprs879253741
ensemblrs879253741
gopubmedrs879253741
geneviewrs879253741
scholarrs879253741
googlers879253741
pharmgkbrs879253741
gwascentralrs879253741
openSNPrs879253741
23andMers879253741
23andMe allrs879253741
SNP Nexus

SNPshotrs879253741
SNPdbers879253741
MSV3drs879253741
GWAS Ctlgrs879253741
Max Magnitude0
ClinVar
Risk rs879253741(T;T)
Alt rs879253741(T;T)
Reference rs879253741(G;G)
Significance Pathogenic
Disease Keratoderma palmoplantar deafness
Variation info
Gene GJB2
CLNDBN Keratoderma palmoplantar deafness
Reversed 1
HGVS NC_000013.10:g.20763655C>A
CLNSRC
CLNACC RCV000234850.1,