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rs104894406

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894406(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20188977
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894406
ebirs104894406
HLIrs104894406
Exacrs104894406
Varsomers104894406
Maprs104894406
PheGenIrs104894406
hapmaprs104894406
1000 genomesrs104894406
hgdprs104894406
ensemblrs104894406
gopubmedrs104894406
geneviewrs104894406
scholarrs104894406
googlers104894406
pharmgkbrs104894406
gwascentralrs104894406
openSNPrs104894406
23andMers104894406
23andMe allrs104894406
SNP Nexus

SNPshotrs104894406
SNPdbers104894406
MSV3drs104894406
GWAS Ctlgrs104894406
Max Magnitude0
OMIM121011
Desc
Variant0018
Relatedalso
ClinVar
Risk rs104894406(T;T)
Alt rs104894406(T;T)
Reference rs104894406(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a
Reversed 1
HGVS NC_000013.10:g.20763116C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018544.24,