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rs780320724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs780320724(A;A)
Make rs780320724(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position20223362
GeneGJB6
is asnp
is mentioned by
dbSNPrs780320724
dbSNP (classic)rs780320724
ClinGenrs780320724
ebirs780320724
HLIrs780320724
Exacrs780320724
Gnomadrs780320724
Varsomers780320724
LitVarrs780320724
Maprs780320724
PheGenIrs780320724
Biobankrs780320724
1000 genomesrs780320724
hgdprs780320724
ensemblrs780320724
geneviewrs780320724
scholarrs780320724
googlers780320724
pharmgkbrs780320724
gwascentralrs780320724
openSNPrs780320724
23andMers780320724
SNPshotrs780320724
SNPdbers780320724
MSV3drs780320724
GWAS Ctlgrs780320724
Max Magnitude0
ClinVar
Risk rs780320724(A;A)
Alt rs780320724(A;A)
Reference Rs780320724(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB6
CLNDBN Deafness, autosomal dominant 3b
Reversed 0
HGVS NC_000013.10:g.20797501G>A
CLNSRC
CLNACC RCV000487477.1,