THBD, thrombomodulin, 7056

N. diseases: 303; N. variants: 23
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: rs1042579
rs1042579
0.732 0.240 20 23048087 missense variant G/A;T snv 0.19
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2002 2004
dbSNP: rs147377392
rs147377392
0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2003 2004
dbSNP: rs1800576
rs1800576
0.925 0.080 20 23049378 missense variant C/T snv 2.0E-03 2.5E-03
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 1998 1998