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rs121917868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917868(A;G)
Make rs121917868(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position98581474
GeneCPOX
is asnp
is mentioned by
dbSNPrs121917868
dbSNP (classic)rs121917868
ClinGenrs121917868
ebirs121917868
HLIrs121917868
Exacrs121917868
Gnomadrs121917868
Varsomers121917868
LitVarrs121917868
Maprs121917868
PheGenIrs121917868
Biobankrs121917868
1000 genomesrs121917868
hgdprs121917868
ensemblrs121917868
geneviewrs121917868
scholarrs121917868
googlers121917868
pharmgkbrs121917868
gwascentralrs121917868
openSNPrs121917868
23andMers121917868
SNPshotrs121917868
SNPdbers121917868
MSV3drs121917868
GWAS Ctlgrs121917868
Max Magnitude0
ClinVar
Risk rs121917868(G;G)
Alt rs121917868(G;G)
Reference Rs121917868(A;A)
Significance Pathogenic
Disease Harderoporphyria
Variation info
Gene CPOX
CLNDBN Harderoporphyria
Reversed 1
HGVS NC_000003.11:g.98300318T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000482.2,