Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917872(C;T)
Make rs121917872(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position98591089
GeneCPOX
is asnp
is mentioned by
dbSNPrs121917872
dbSNP (classic)rs121917872
ClinGenrs121917872
ebirs121917872
HLIrs121917872
Exacrs121917872
Gnomadrs121917872
Varsomers121917872
LitVarrs121917872
Maprs121917872
PheGenIrs121917872
Biobankrs121917872
1000 genomesrs121917872
hgdprs121917872
ensemblrs121917872
geneviewrs121917872
scholarrs121917872
googlers121917872
pharmgkbrs121917872
gwascentralrs121917872
openSNPrs121917872
23andMers121917872
SNPshotrs121917872
SNPdbers121917872
MSV3drs121917872
GWAS Ctlgrs121917872
Merged fromRs28929486
Max Magnitude0
ClinVar
Risk rs121917872(T;T)
Alt rs121917872(T;T)
Reference Rs121917872(C;C)
Significance Pathogenic
Disease Coproporphyria
Variation info
Gene CPOX
CLNDBN Coproporphyria
Reversed 1
HGVS NC_000003.11:g.98309933G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000489.2,