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rs786204491

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 3 Carrier of a recessive deafness mutation
Make rs786204491(-;-)
Make rs786204491(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position20189291
GeneGJB2
is asnp
is mentioned by
dbSNPrs786204491
ebirs786204491
HLIrs786204491
Exacrs786204491
Varsomers786204491
Maprs786204491
PheGenIrs786204491
hapmaprs786204491
1000 genomesrs786204491
hgdprs786204491
ensemblrs786204491
gopubmedrs786204491
geneviewrs786204491
scholarrs786204491
googlers786204491
pharmgkbrs786204491
gwascentralrs786204491
openSNPrs786204491
23andMers786204491
23andMe allrs786204491
SNP Nexus

SNPshotrs786204491
SNPdbers786204491
MSV3drs786204491
GWAS Ctlgrs786204491
Max Magnitude3
ClinVar
Risk rs786204491(A;A)
Alt rs786204491(A;A)
Reference rs786204491(;)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763431dupT
CLNSRC
CLNACC RCV000169160.1,