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rs121918325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918325(C;T)
Make rs121918325(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161168462
GenePPOX
is asnp
is mentioned by
dbSNPrs121918325
ebirs121918325
HLIrs121918325
Exacrs121918325
Varsomers121918325
Maprs121918325
PheGenIrs121918325
hapmaprs121918325
1000 genomesrs121918325
hgdprs121918325
ensemblrs121918325
gopubmedrs121918325
geneviewrs121918325
scholarrs121918325
googlers121918325
pharmgkbrs121918325
gwascentralrs121918325
openSNPrs121918325
23andMers121918325
23andMe allrs121918325
SNP Nexus

SNPshotrs121918325
SNPdbers121918325
MSV3drs121918325
GWAS Ctlgrs121918325
Max Magnitude0
OMIM600923
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918325(T;T)
Alt rs121918325(T;T)
Reference rs121918325(C;C)
Significance Pathogenic
Disease Variegate porphyria
Variation info
Gene PPOX
CLNDBN Variegate porphyria
Reversed 0
HGVS NC_000001.10:g.161138252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009231.4,