APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1042031
rs1042031
0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.030 0.667 3 2017 2019
dbSNP: rs12713559
rs12713559
0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 1997 1997
dbSNP: rs200353509
rs200353509
0.882 0.120 2 21035701 missense variant G/A;C;T snv 4.0E-06; 6.0E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs535864736
rs535864736
1.000 0.040 2 21038111 missense variant C/A;T snv 2.8E-05 7.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs693
rs693
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs749903604
rs749903604
0.882 0.080 2 21042450 missense variant G/A snv 8.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs767587977
rs767587977
0.882 0.120 2 21002962 stop gained C/A;T snv 8.2E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 1990 1990
dbSNP: rs777249279
rs777249279
0.925 0.080 2 21006422 missense variant G/A;T snv 4.0E-06 7.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 < 0.001 1 1997 1997