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rs74315321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315321(C;C)
Make rs74315321(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position34784887
GeneGJB3
is asnp
is mentioned by
dbSNPrs74315321
ebirs74315321
HLIrs74315321
Exacrs74315321
Varsomers74315321
Maprs74315321
PheGenIrs74315321
hapmaprs74315321
1000 genomesrs74315321
hgdprs74315321
ensemblrs74315321
gopubmedrs74315321
geneviewrs74315321
scholarrs74315321
googlers74315321
pharmgkbrs74315321
gwascentralrs74315321
openSNPrs74315321
23andMers74315321
23andMe allrs74315321
SNP Nexus

SNPshotrs74315321
SNPdbers74315321
MSV3drs74315321
GWAS Ctlgrs74315321
Max Magnitude0
OMIM603324
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315321(A,C;A,C)
Alt rs74315321(A,C;A,C)
Reference rs74315321(G;G)
Significance Pathogenic
Disease Erythrokeratodermia variabilis
Variation info
Gene GJB3
CLNDBN Erythrokeratodermia variabilis
Reversed 0
HGVS NC_000001.10:g.35250488G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006862.4,