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rs121917874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917874(C;C)
Make rs121917874(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position98588831
GeneCPOX
is asnp
is mentioned by
dbSNPrs121917874
dbSNP (classic)rs121917874
ClinGenrs121917874
ebirs121917874
HLIrs121917874
Exacrs121917874
Gnomadrs121917874
Varsomers121917874
LitVarrs121917874
Maprs121917874
PheGenIrs121917874
Biobankrs121917874
1000 genomesrs121917874
hgdprs121917874
ensemblrs121917874
geneviewrs121917874
scholarrs121917874
googlers121917874
pharmgkbrs121917874
gwascentralrs121917874
openSNPrs121917874
23andMers121917874
SNPshotrs121917874
SNPdbers121917874
MSV3drs121917874
GWAS Ctlgrs121917874
Max Magnitude0
ClinVar
Risk rs121917874(C;C)
Alt rs121917874(C;C)
Reference Rs121917874(G;G)
Significance Pathogenic
Disease Coproporphyria
Variation info
Gene CPOX
CLNDBN Coproporphyria, digenic
Reversed 1
HGVS NC_000003.11:g.98307675C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000492.2,