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rs74315315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315315(C;C)
Make rs74315315(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34784796
GeneGJB3
is asnp
is mentioned by
dbSNPrs74315315
ebirs74315315
HLIrs74315315
Exacrs74315315
Varsomers74315315
Maprs74315315
PheGenIrs74315315
hapmaprs74315315
1000 genomesrs74315315
hgdprs74315315
ensemblrs74315315
gopubmedrs74315315
geneviewrs74315315
scholarrs74315315
googlers74315315
pharmgkbrs74315315
gwascentralrs74315315
openSNPrs74315315
23andMers74315315
23andMe allrs74315315
SNP Nexus

SNPshotrs74315315
SNPdbers74315315
MSV3drs74315315
GWAS Ctlgrs74315315
Max Magnitude0
OMIM603324
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315315(A,C;A,C)
Alt rs74315315(A,C;A,C)
Reference rs74315315(G;G)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB3
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35250397G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006855.3,