rs5742904, APOB

N. diseases: 22
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 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.900 1.000 26 1989 2018
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 22 1989 2017
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 14 1990 2017
Low density lipoprotein cholesterol measurement
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
1142 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 3 2012 2014
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 1.000 41 1989 2016
Acanthocytosis With Hypobetalipoproteinemia
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
17 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 1.000 11 1989 2013
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 1.000 2 2012 2012
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 1.000 1 2012 2012
Hypobetalipoproteinemias
CUI: C0020597
Disease: Hypobetalipoproteinemias
11 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 0
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.100 0.917 12 1991 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.060 1.000 6 1994 2012
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.020 1.000 2 2001 2001
Atypical Ductal Breast Hyperplasia
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
17 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2010 2010
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2018 2018
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1992 1992
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1992 1992
Hyperkeratosis lenticularis perstans
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
11 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1992 1992
Hyperlipidemia, group A
CUI: C0678189
Disease: Hyperlipidemia, group A
1 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2001 2001
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
24 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1992 1992
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2012 2012
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
103 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1998 1998
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2018 2018