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rs117385606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs117385606(A;A)
Make rs117385606(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34785342
GeneGJB3
is asnp
is mentioned by
dbSNPrs117385606
ebirs117385606
HLIrs117385606
Exacrs117385606
Varsomers117385606
Maprs117385606
PheGenIrs117385606
hapmaprs117385606
1000 genomesrs117385606
hgdprs117385606
ensemblrs117385606
gopubmedrs117385606
geneviewrs117385606
scholarrs117385606
googlers117385606
pharmgkbrs117385606
gwascentralrs117385606
openSNPrs117385606
23andMers117385606
23andMe allrs117385606
SNP Nexus

SNPshotrs117385606
SNPdbers117385606
MSV3drs117385606
GWAS Ctlgrs117385606
Merged fromRs121908852
GMAF0.002755
Max Magnitude0
OMIM603324
Desc
Variant0012
Relatedalso
ClinVar
Risk rs117385606(A;A)
Alt rs117385606(A;A)
Reference rs117385606(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB3
CLNDBN Deafness, digenic, GJB2/GJB3
Reversed 0
HGVS NC_000001.10:g.35250943G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006866.2,