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rs28936676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Variegate porphyria carrier
(C;C) 3.5 Variegate porphyria
ReferenceGRCh38 38.1/141
Chromosome1
Position161170467
GenePPOX
is asnp
is mentioned by
dbSNPrs28936676
ebirs28936676
HLIrs28936676
Exacrs28936676
Varsomers28936676
Maprs28936676
PheGenIrs28936676
hapmaprs28936676
1000 genomesrs28936676
hgdprs28936676
ensemblrs28936676
gopubmedrs28936676
geneviewrs28936676
scholarrs28936676
googlers28936676
pharmgkbrs28936676
gwascentralrs28936676
openSNPrs28936676
23andMers28936676
23andMe allrs28936676
SNP Nexus

SNPshotrs28936676
SNPdbers28936676
MSV3drs28936676
GWAS Ctlgrs28936676
Max Magnitude3.5
OMIM600923
DescVARIEGATE PORPHYRIA, HOMOZYGOUS
Variant0007
Relatedalso


ClinVar
Risk rs28936676(C;C)
Alt rs28936676(C;C)
Reference rs28936676(A;A)
Significance Pathogenic
Disease Variegate porphyria
Variation info
Gene PPOX
CLNDBN Variegate porphyria, homozygous
Reversed 0
HGVS NC_000001.10:g.161140257A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009235.3,