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rs74315316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315316(A;A)
Make rs74315316(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34784797
GeneGJB3
is asnp
is mentioned by
dbSNPrs74315316
ebirs74315316
HLIrs74315316
Exacrs74315316
Varsomers74315316
Maprs74315316
PheGenIrs74315316
hapmaprs74315316
1000 genomesrs74315316
hgdprs74315316
ensemblrs74315316
gopubmedrs74315316
geneviewrs74315316
scholarrs74315316
googlers74315316
pharmgkbrs74315316
gwascentralrs74315316
openSNPrs74315316
23andMers74315316
23andMe allrs74315316
SNP Nexus

SNPshotrs74315316
SNPdbers74315316
MSV3drs74315316
GWAS Ctlgrs74315316
Max Magnitude0
OMIM603324
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315316(A;A)
Alt rs74315316(A;A)
Reference rs74315316(G;G)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB3
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35250398G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006856.3,