Have questions? Visit https://www.reddit.com/r/SNPedia

rs12735723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Variegate porphyria carrier
(G;G) 3.5 Variegate porphyria
ReferenceGRCh38 38.1/141
Chromosome1
Position161169143
GenePPOX
is asnp
is mentioned by
dbSNPrs12735723
ebirs12735723
HLIrs12735723
Exacrs12735723
Varsomers12735723
Maprs12735723
PheGenIrs12735723
hapmaprs12735723
1000 genomesrs12735723
hgdprs12735723
ensemblrs12735723
gopubmedrs12735723
geneviewrs12735723
scholarrs12735723
googlers12735723
pharmgkbrs12735723
gwascentralrs12735723
openSNPrs12735723
23andMers12735723
23andMe allrs12735723
SNP Nexus

SNPshotrs12735723
SNPdbers12735723
MSV3drs12735723
GWAS Ctlgrs12735723
GMAF0.004132
Max Magnitude3.5
? (C;C) (C;G) (G;G) 28
OMIM600923
DescVARIEGATE PORPHYRIA, HOMOZYGOUS
Variant0013
Relatedalso


Venter snp
Source plos
Gene PPOX
allele G
frequency 0.025
sift TOLERATED
HuRef 1103675240750
Disease Association Defects in PPOX are the cause of porphyria variegata (VP) (MIM:176200). It is characterized by skin hyperpigmentation and hair hypertrichosis, associated with acute attacks, like those of acute intermittent porphyria.



ClinVar
Risk rs12735723(G,T;G,T)
Alt rs12735723(G,T;G,T)
Reference rs12735723(C;C)
Significance Pathogenic
Disease Variegate porphyria
Variation info
Gene PPOX
CLNDBN Variegate porphyria, homozygous
Reversed 0
HGVS NC_000001.10:g.161138933C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009241.5,