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rs1064797088

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome13
Position20189446
GeneGJB2
is asnp
is mentioned by
dbSNPrs1064797088
dbSNP (classic)rs1064797088
ClinGenrs1064797088
ebirs1064797088
HLIrs1064797088
Exacrs1064797088
Gnomadrs1064797088
Varsomers1064797088
LitVarrs1064797088
Maprs1064797088
PheGenIrs1064797088
Biobankrs1064797088
1000 genomesrs1064797088
hgdprs1064797088
ensemblrs1064797088
geneviewrs1064797088
scholarrs1064797088
googlers1064797088
pharmgkbrs1064797088
gwascentralrs1064797088
openSNPrs1064797088
23andMers1064797088
23andMe allrs1064797088
SNPshotrs1064797088
SNPdbers1064797088
MSV3drs1064797088
GWAS Ctlgrs1064797088
Max Magnitude0
ClinVar
Risk rs1064797088(A;A)
Alt rs1064797088(A;A)
Reference Rs1064797088(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a
Reversed 1
HGVS NC_000013.10:g.20763585C>T
CLNSRC
CLNACC RCV000487475.1,