rs564427867, PCSK9

N. diseases: 6
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.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.720 1.000 2 2010 2014
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.700 1.000 6 2008 2015
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
13 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.700 1.000 2 2010 2014
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.020 1.000 2 2010 2014
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.010 1.000 1 2010 2010
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.010 1.000 1 2018 2018