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rs121918326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918326(A;C)
Make rs121918326(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position161166906
GenePPOX
is asnp
is mentioned by
dbSNPrs121918326
dbSNP (old)rs121918326
ClinGenrs121918326
ebirs121918326
HLIrs121918326
Exacrs121918326
Gnomadrs121918326
Varsomers121918326
Maprs121918326
PheGenIrs121918326
Biobankrs121918326
1000 genomesrs121918326
hgdprs121918326
ensemblrs121918326
gopubmedrs121918326
geneviewrs121918326
scholarrs121918326
googlers121918326
pharmgkbrs121918326
gwascentralrs121918326
openSNPrs121918326
23andMers121918326
23andMe allrs121918326
SNP Nexus

SNPshotrs121918326
SNPdbers121918326
MSV3drs121918326
GWAS Ctlgrs121918326
Max Magnitude0
OMIM600923
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918326(C;C)
Alt rs121918326(C;C)
Reference Rs121918326(A;A)
Significance Pathogenic
Disease Variegate porphyria
Variation info
Gene PPOX
CLNDBN Variegate porphyria
Reversed 0
HGVS NC_000001.10:g.161136696A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009232.4,