rs28942111, PCSK9

N. diseases: 7
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 0.807 0.120 1 55044016 missense variant T/A snv 0.800 1.000 3 2003 2014
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.807 0.120 1 55044016 missense variant T/A snv 0.700 0
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.807 0.120 1 55044016 missense variant T/A snv 0.030 1.000 3 2007 2009
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
22 0.807 0.120 1 55044016 missense variant T/A snv 0.020 1.000 2 2007 2007
Atypical Ductal Breast Hyperplasia
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
17 0.807 0.120 1 55044016 missense variant T/A snv 0.010 1.000 1 2016 2016
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
184 0.807 0.120 1 55044016 missense variant T/A snv 0.010 1.000 1 2018 2018
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.807 0.120 1 55044016 missense variant T/A snv 0.010 1.000 1 2008 2008