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rs1064797090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome13
Position20189410
GeneGJB2
is asnp
is mentioned by
dbSNPrs1064797090
dbSNP (classic)rs1064797090
ClinGenrs1064797090
ebirs1064797090
HLIrs1064797090
Exacrs1064797090
Gnomadrs1064797090
Varsomers1064797090
LitVarrs1064797090
Maprs1064797090
PheGenIrs1064797090
Biobankrs1064797090
1000 genomesrs1064797090
hgdprs1064797090
ensemblrs1064797090
geneviewrs1064797090
scholarrs1064797090
googlers1064797090
pharmgkbrs1064797090
gwascentralrs1064797090
openSNPrs1064797090
23andMers1064797090
23andMe allrs1064797090
SNPshotrs1064797090
SNPdbers1064797090
MSV3drs1064797090
GWAS Ctlgrs1064797090
Max Magnitude0
ClinVar
Risk rs1064797090(G;G)
Alt rs1064797090(G;G)
Reference Rs1064797090(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a
Reversed 1
HGVS NC_000013.10:g.20763549G>C
CLNSRC
CLNACC RCV000487476.1,