rs144467873, APOB

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.
Hyperlipoproteinemia Type IIb
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
16 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.710 1.000 15 1989 2017
Acanthocytosis With Hypobetalipoproteinemia
17 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 14 1989 2017
Familial hypercholesterolemia - homozygous
72 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 14 1995 2014
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 2 2012 2016
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 1 2016 2016
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.020 1.000 2 1997 1999
Atypical Ductal Breast Hyperplasia
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
17 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.010 1.000 1 2007 2007
Cerebrovascular Disorders
CUI: C0007820
Disease: Cerebrovascular Disorders
56 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.010 1.000 1 1999 1999
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.010 1.000 1 2007 2007