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rs121917870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917870(C;G)
Make rs121917870(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position98588783
GeneCPOX
is asnp
is mentioned by
dbSNPrs121917870
dbSNP (classic)rs121917870
ClinGenrs121917870
ebirs121917870
HLIrs121917870
Exacrs121917870
Gnomadrs121917870
Varsomers121917870
LitVarrs121917870
Maprs121917870
PheGenIrs121917870
Biobankrs121917870
1000 genomesrs121917870
hgdprs121917870
ensemblrs121917870
geneviewrs121917870
scholarrs121917870
googlers121917870
pharmgkbrs121917870
gwascentralrs121917870
openSNPrs121917870
23andMers121917870
SNPshotrs121917870
SNPdbers121917870
MSV3drs121917870
GWAS Ctlgrs121917870
Max Magnitude0
ClinVar
Risk rs121917870(G;G) rs121917870(T;T)
Alt rs121917870(G;G) rs121917870(T;T)
Reference Rs121917870(C;C)
Significance Pathogenic
Disease Coproporphyria
Variation info
Gene CPOX
CLNDBN Coproporphyria
Reversed 1
HGVS NC_000003.11:g.98307627G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000485.4,