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rs786204734

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a recessive deafness mutation
Make rs786204734(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position20192783
GeneGJB2
is asnp
is mentioned by
dbSNPrs786204734
ebirs786204734
HLIrs786204734
Exacrs786204734
Varsomers786204734
Maprs786204734
PheGenIrs786204734
hapmaprs786204734
1000 genomesrs786204734
hgdprs786204734
ensemblrs786204734
gopubmedrs786204734
geneviewrs786204734
scholarrs786204734
googlers786204734
pharmgkbrs786204734
gwascentralrs786204734
openSNPrs786204734
23andMers786204734
23andMe allrs786204734
SNP Nexus

SNPshotrs786204734
SNPdbers786204734
MSV3drs786204734
GWAS Ctlgrs786204734
Max Magnitude3
ClinVar
Risk rs786204734(T;T)
Alt rs786204734(T;T)
Reference rs786204734(G;G)
Significance Probable-Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20766922C>A
CLNSRC
CLNACC RCV000169581.1, RCV000220459.1,