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rs104894413

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(C;G) 4 Deafness mutation (dominant)
(G;G) 0 common in clinvar


Make rs104894413(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189451
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894413
ebirs104894413
HLIrs104894413
Exacrs104894413
Varsomers104894413
Maprs104894413
PheGenIrs104894413
hapmaprs104894413
1000 genomesrs104894413
hgdprs104894413
ensemblrs104894413
gopubmedrs104894413
geneviewrs104894413
scholarrs104894413
googlers104894413
pharmgkbrs104894413
gwascentralrs104894413
openSNPrs104894413
23andMers104894413
23andMe allrs104894413
SNP Nexus

SNPshotrs104894413
SNPdbers104894413
MSV3drs104894413
GWAS Ctlgrs104894413
Max Magnitude4
OMIM121011
Desc
Variant0031
Relatedalso
ClinVar
Risk rs104894413(A,C;A,C)
Alt rs104894413(A,C;A,C)
Reference rs104894413(G;G)
Significance Other
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763590C>G; NC_000013.10:g.20763590C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018559.27, RCV000169176.2,