rs562556, PCSK9

N. diseases: 8
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.
Low density lipoprotein cholesterol measurement
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
1142 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.700 1.000 1 2012 2012
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.700 1.000 1 2012 2012
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2015 2015
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2007 2007
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1 2015 2015
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2007 2007
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2019 2019
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
363 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2018 2018