rs767419411, PPOX

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Variegate Porphyria
CUI: C0162532
Disease: Variegate Porphyria
24 0.882 0.200 1 161168069 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.700 1.000 20 1996 2013
Homozygous variegate porphyria
CUI: C0342860
Disease: Homozygous variegate porphyria
4 0.882 0.200 1 161168069 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.010 1.000 1 2000 2000
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
9 0.882 0.200 1 161168069 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013