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rs74315317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315317(A;A)
Make rs74315317(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position34785018
GeneGJB3
is asnp
is mentioned by
dbSNPrs74315317
ebirs74315317
HLIrs74315317
Exacrs74315317
Varsomers74315317
Maprs74315317
PheGenIrs74315317
hapmaprs74315317
1000 genomesrs74315317
hgdprs74315317
ensemblrs74315317
gopubmedrs74315317
geneviewrs74315317
scholarrs74315317
googlers74315317
pharmgkbrs74315317
gwascentralrs74315317
openSNPrs74315317
23andMers74315317
23andMe allrs74315317
SNP Nexus

SNPshotrs74315317
SNPdbers74315317
MSV3drs74315317
GWAS Ctlgrs74315317
Max Magnitude0
OMIM603324
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315317(A,C;A,C)
Alt rs74315317(A,C;A,C)
Reference rs74315317(T;T)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB3
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35250619T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006857.3,