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rs1064797089

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome13
Position20189418
GeneGJB2
is asnp
is mentioned by
dbSNPrs1064797089
dbSNP (old)rs1064797089
ClinGenrs1064797089
ebirs1064797089
HLIrs1064797089
Exacrs1064797089
Gnomadrs1064797089
Varsomers1064797089
Maprs1064797089
PheGenIrs1064797089
Biobankrs1064797089
1000 genomesrs1064797089
hgdprs1064797089
ensemblrs1064797089
gopubmedrs1064797089
geneviewrs1064797089
scholarrs1064797089
googlers1064797089
pharmgkbrs1064797089
gwascentralrs1064797089
openSNPrs1064797089
23andMers1064797089
23andMe allrs1064797089
SNPshotrs1064797089
SNPdbers1064797089
MSV3drs1064797089
GWAS Ctlgrs1064797089
Max Magnitude0
ClinVar
Risk rs1064797089(A;A)
Alt rs1064797089(A;A)
Reference Rs1064797089(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a
Reversed 1
HGVS NC_000013.10:g.20763557G>T
CLNSRC
CLNACC RCV000487478.1,