rs374603772, PCSK9

N. diseases: 9
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, AUTOSOMAL DOMINANT, 3
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
13 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.800 1.000 6 2006 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.710 1.000 1 2017 2017
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
79 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2006 2006
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
184 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2018 2018
Familial hypobetalipoproteinemia
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
24 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2007 2007
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2018 2018
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2017 2017
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2006 2006
Xanthomatosis
CUI: C0043325
Disease: Xanthomatosis
10 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2006 2006