CETP, cholesteryl ester transfer protein, 1071

N. diseases: 188; N. variants: 88
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: rs1864163
rs1864163
0.882 0.120 16 56963321 intron variant G/A snv 0.26
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.810 1.000 2 2013 2019
dbSNP: rs1800775
rs1800775
0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06
High density lipoprotein measurement
0.800 1.000 11 2007 2019
dbSNP: rs5880
rs5880
0.827 0.040 16 56981179 missense variant G/C snv 5.2E-02 3.7E-02
High density lipoprotein measurement
0.800 1.000 7 2008 2019
dbSNP: rs7499892
rs7499892
16 56972678 intron variant C/G;T snv
High density lipoprotein measurement
0.800 1.000 7 2011 2019
dbSNP: rs1532624
rs1532624
0.851 0.160 16 56971567 intron variant C/A snv 0.34
High density lipoprotein measurement
0.800 1.000 6 2009 2019
dbSNP: rs17231506
rs17231506
0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28
High density lipoprotein measurement
0.800 1.000 6 2012 2019
dbSNP: rs1864163
rs1864163
0.882 0.120 16 56963321 intron variant G/A snv 0.26
High density lipoprotein measurement
0.800 1.000 5 2008 2019
dbSNP: rs17231520
rs17231520
0.851 0.240 16 56961915 upstream gene variant G/A snv 2.1E-02
High density lipoprotein measurement
0.800 1.000 4 2012 2019
dbSNP: rs4783961
rs4783961
0.851 0.320 16 56960982 upstream gene variant G/A snv 0.48 0.47
High density lipoprotein measurement
0.800 1.000 4 2012 2019
dbSNP: rs5883
rs5883
1.000 0.040 16 56973441 synonymous variant C/T snv 5.1E-02 6.6E-02
High density lipoprotein measurement
0.800 1.000 4 2012 2019
dbSNP: rs711752
rs711752
1.000 0.040 16 56962299 splice region variant G/A;C snv
High density lipoprotein measurement
0.800 1.000 4 2008 2016
dbSNP: rs7499892
rs7499892
16 56972678 intron variant C/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 4 2012 2019
dbSNP: rs11076174
rs11076174
16 56969234 intron variant T/C snv 0.10
High density lipoprotein measurement
0.800 1.000 3 2012 2019
dbSNP: rs12708980
rs12708980
16 56978467 intron variant T/G snv 0.36
High density lipoprotein measurement
0.800 1.000 3 2011 2019
dbSNP: rs12720922
rs12720922
16 56966973 intron variant G/A snv 0.23
High density lipoprotein measurement
0.800 1.000 3 2012 2019
dbSNP: rs17231506
rs17231506
0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 3 2012 2019
dbSNP: rs1800775
rs1800775
0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 3 2012 2019
dbSNP: rs1864163
rs1864163
0.882 0.120 16 56963321 intron variant G/A snv 0.26
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 3 2012 2019
dbSNP: rs289742
rs289742
16 56983850 downstream gene variant C/G snv 0.80
High density lipoprotein measurement
0.800 1.000 3 2012 2019
dbSNP: rs7205804
rs7205804
16 56970977 intron variant G/A snv 0.34
High density lipoprotein measurement
0.800 1.000 3 2008 2019
dbSNP: rs9923854
rs9923854
16 56983090 intron variant T/G snv 0.10
High density lipoprotein measurement
0.800 1.000 3 2012 2019
dbSNP: rs118146573
rs118146573
16 56967026 intron variant G/A snv 9.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 2 2014 2018
dbSNP: rs12720922
rs12720922
16 56966973 intron variant G/A snv 0.23
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 2 2012 2018
dbSNP: rs1532624
rs1532624
0.851 0.160 16 56971567 intron variant C/A snv 0.34
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 2 2010 2012
dbSNP: rs17231506
rs17231506
0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.800 1.000 2 2012 2018