APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
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: rs11542041
rs11542041
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2004 2007
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2006 2019
dbSNP: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2009 2019
dbSNP: rs1275147925
rs1275147925
1.000 0.080 19 44906613 missense variant A/G snv 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1458301734
rs1458301734
1.000 0.080 19 44908687 missense variant G/A;T snv 5.9E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs868094551
rs868094551
1.000 0.080 19 44908768 missense variant C/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004