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rs121908851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908851(A;G)
Make rs121908851(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34785259
GeneGJB3, LOC105378642
is asnp
is mentioned by
dbSNPrs121908851
dbSNP (classic)rs121908851
ClinGenrs121908851
ebirs121908851
HLIrs121908851
Exacrs121908851
Gnomadrs121908851
Varsomers121908851
LitVarrs121908851
Maprs121908851
PheGenIrs121908851
Biobankrs121908851
1000 genomesrs121908851
hgdprs121908851
ensemblrs121908851
geneviewrs121908851
scholarrs121908851
googlers121908851
pharmgkbrs121908851
gwascentralrs121908851
openSNPrs121908851
23andMers121908851
SNPshotrs121908851
SNPdbers121908851
MSV3drs121908851
GWAS Ctlgrs121908851
Max Magnitude0
OMIM603324
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908851(G;G) rs121908851(T;T)
Alt rs121908851(G;G) rs121908851(T;T)
Reference Rs121908851(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB3
CLNDBN Deafness, digenic, GJB2/GJB3
Reversed 0
HGVS NC_000001.10:g.35250860A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006865.3,