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rs74315320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315320(A;G)
Make rs74315320(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34785183
GeneGJB3
is asnp
is mentioned by
dbSNPrs74315320
ebirs74315320
HLIrs74315320
Exacrs74315320
Varsomers74315320
Maprs74315320
PheGenIrs74315320
hapmaprs74315320
1000 genomesrs74315320
hgdprs74315320
ensemblrs74315320
gopubmedrs74315320
geneviewrs74315320
scholarrs74315320
googlers74315320
pharmgkbrs74315320
gwascentralrs74315320
openSNPrs74315320
23andMers74315320
23andMe allrs74315320
SNP Nexus

SNPshotrs74315320
SNPdbers74315320
MSV3drs74315320
GWAS Ctlgrs74315320
Max Magnitude0
OMIM603324
Desc
Variant0007
Relatedalso
ClinVar
Risk rs74315320(G;G)
Alt rs74315320(G;G)
Reference rs74315320(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB3
CLNDBN Deafness, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.35250784A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006861.3,