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rs121917873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917873(C;T)
Make rs121917873(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position98585631
GeneCPOX
is asnp
is mentioned by
dbSNPrs121917873
dbSNP (classic)rs121917873
ClinGenrs121917873
ebirs121917873
HLIrs121917873
Exacrs121917873
Gnomadrs121917873
Varsomers121917873
LitVarrs121917873
Maprs121917873
PheGenIrs121917873
Biobankrs121917873
1000 genomesrs121917873
hgdprs121917873
ensemblrs121917873
geneviewrs121917873
scholarrs121917873
googlers121917873
pharmgkbrs121917873
gwascentralrs121917873
openSNPrs121917873
23andMers121917873
SNPshotrs121917873
SNPdbers121917873
MSV3drs121917873
GWAS Ctlgrs121917873
Merged fromRs28929487
Max Magnitude0
ClinVar
Risk rs121917873(T;T)
Alt rs121917873(T;T)
Reference Rs121917873(C;C)
Significance Pathogenic
Disease Coproporphyria
Variation info
Gene CPOX
CLNDBN Coproporphyria
Reversed 1
HGVS NC_000003.11:g.98304475G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000490.2,