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rs786204597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a recessive deafness mutation
Make rs786204597(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position20188984
GeneGJB2
is asnp
is mentioned by
dbSNPrs786204597
dbSNP (old)rs786204597
ClinGenrs786204597
ebirs786204597
HLIrs786204597
Exacrs786204597
Gnomadrs786204597
Varsomers786204597
Maprs786204597
PheGenIrs786204597
Biobankrs786204597
1000 genomesrs786204597
hgdprs786204597
ensemblrs786204597
gopubmedrs786204597
geneviewrs786204597
scholarrs786204597
googlers786204597
pharmgkbrs786204597
gwascentralrs786204597
openSNPrs786204597
23andMers786204597
23andMe allrs786204597
SNP Nexus

SNPshotrs786204597
SNPdbers786204597
MSV3drs786204597
GWAS Ctlgrs786204597
Max Magnitude3
ClinVar
Risk rs786204597(A;A) rs786204597(T;T)
Alt rs786204597(A;A) rs786204597(T;T)
Reference Rs786204597(G;G)
Significance Other
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a
Reversed 1
HGVS NC_000013.10:g.20763123C>A; NC_000013.10:g.20763123C>T
CLNSRC
CLNACC RCV000169350.1, RCV000210857.1, RCV000411925.1,