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rs786204690

From SNPedia

Orientationminus
Geno Mag Summary
(A;C) 3 Carrier of a recessive deafness mutation
(C;C) 0 common in clinvar


Make rs786204690(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position20189174
GeneGJB2
is asnp
is mentioned by
dbSNPrs786204690
ebirs786204690
HLIrs786204690
Exacrs786204690
Varsomers786204690
Maprs786204690
PheGenIrs786204690
hapmaprs786204690
1000 genomesrs786204690
hgdprs786204690
ensemblrs786204690
gopubmedrs786204690
geneviewrs786204690
scholarrs786204690
googlers786204690
pharmgkbrs786204690
gwascentralrs786204690
openSNPrs786204690
23andMers786204690
23andMe allrs786204690
SNP Nexus

SNPshotrs786204690
SNPdbers786204690
MSV3drs786204690
GWAS Ctlgrs786204690
Max Magnitude3
ClinVar
Risk rs786204690(A;A)
Alt rs786204690(A;A)
Reference rs786204690(C;C)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763313G>T
CLNSRC
CLNACC RCV000169498.1,