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rs121918323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918323(C;C)
Make rs121918323(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161169070
GenePPOX
is asnp
is mentioned by
dbSNPrs121918323
ebirs121918323
HLIrs121918323
Exacrs121918323
Varsomers121918323
Maprs121918323
PheGenIrs121918323
hapmaprs121918323
1000 genomesrs121918323
hgdprs121918323
ensemblrs121918323
gopubmedrs121918323
geneviewrs121918323
scholarrs121918323
googlers121918323
pharmgkbrs121918323
gwascentralrs121918323
openSNPrs121918323
23andMers121918323
23andMe allrs121918323
SNP Nexus

SNPshotrs121918323
SNPdbers121918323
MSV3drs121918323
GWAS Ctlgrs121918323
Max Magnitude0
OMIM600923
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918323(C;C)
Alt rs121918323(C;C)
Reference rs121918323(G;G)
Significance Pathogenic
Disease Variegate porphyria
Variation info
Gene PPOX
CLNDBN Variegate porphyria
Reversed 0
HGVS NC_000001.10:g.161138860G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009230.3,