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rs104894401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs104894401(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189154
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894401
ebirs104894401
HLIrs104894401
Exacrs104894401
Varsomers104894401
Maprs104894401
PheGenIrs104894401
hapmaprs104894401
1000 genomesrs104894401
hgdprs104894401
ensemblrs104894401
gopubmedrs104894401
geneviewrs104894401
scholarrs104894401
googlers104894401
pharmgkbrs104894401
gwascentralrs104894401
openSNPrs104894401
23andMers104894401
23andMe allrs104894401
SNP Nexus

SNPshotrs104894401
SNPdbers104894401
MSV3drs104894401
GWAS Ctlgrs104894401
Max Magnitude0
OMIM121011
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894401(A;A)
Alt rs104894401(A;A)
Reference rs104894401(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763293C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018542.25, RCV000018543.29,