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rs28936677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3.5 Variegate porphyria
(C;T) 3 Variegate porphyria carrier
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position161166882
GenePPOX
is asnp
is mentioned by
dbSNPrs28936677
ebirs28936677
HLIrs28936677
Exacrs28936677
Varsomers28936677
Maprs28936677
PheGenIrs28936677
hapmaprs28936677
1000 genomesrs28936677
hgdprs28936677
ensemblrs28936677
gopubmedrs28936677
geneviewrs28936677
scholarrs28936677
googlers28936677
pharmgkbrs28936677
gwascentralrs28936677
openSNPrs28936677
23andMers28936677
23andMe allrs28936677
SNP Nexus

SNPshotrs28936677
SNPdbers28936677
MSV3drs28936677
GWAS Ctlgrs28936677
Max Magnitude3.5
OMIM600923
DescVARIEGATE PORPHYRIA, HOMOZYGOUS
Variant0012
Relatedalso


ClinVar
Risk rs28936677(C;C)
Alt rs28936677(C;C)
Reference rs28936677(T;T)
Significance Pathogenic
Disease Variegate porphyria Variegate porphyria
Variation info
Gene PPOX
CLNDBN Variegate porphyria, homozygous Variegate porphyria
Reversed 0
HGVS NC_000001.10:g.161136672T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009240.3, RCV000033939.2,