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rs398123814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 3 Carrier of a recessive deafness mutation
Make rs398123814(-;-)
Make rs398123814(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189546
GeneGJB2
is asnp
is mentioned by
dbSNPrs398123814
ebirs398123814
HLIrs398123814
Exacrs398123814
Varsomers398123814
Maprs398123814
PheGenIrs398123814
hapmaprs398123814
1000 genomesrs398123814
hgdprs398123814
ensemblrs398123814
gopubmedrs398123814
geneviewrs398123814
scholarrs398123814
googlers398123814
pharmgkbrs398123814
gwascentralrs398123814
openSNPrs398123814
23andMers398123814
23andMe allrs398123814
SNP Nexus

SNPshotrs398123814
SNPdbers398123814
MSV3drs398123814
GWAS Ctlgrs398123814
Max Magnitude3
ClinVar
Risk rs398123814(G;G)
Alt rs398123814(G;G)
Reference rs398123814(;)
Significance Other
Disease not provided Deafness
Variation info
Gene GJB2
CLNDBN not provided Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763686dupC
CLNSRC HGMD
CLNACC RCV000080374.3, RCV000169169.2,