CETP, cholesteryl ester transfer protein, 1071

N. diseases: 157; N. variants: 24
Source: BEFREE ×
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: rs5882
rs5882
0.649 0.400 16 56982180 missense variant G/A;C snv 0.62
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.040 1.000 4 2009 2019
dbSNP: rs708272
rs708272
0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.030 1.000 3 2013 2018
dbSNP: rs1800777
rs1800777
0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.020 1.000 2 2012 2014
dbSNP: rs1800775
rs1800775
0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2303790
rs2303790
0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs5880
rs5880
0.827 0.040 16 56981179 missense variant G/C snv 5.2E-02 3.7E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2012 2012