CETP, cholesteryl ester transfer protein, 1071

N. diseases: 188; N. variants: 88
Disease: Metabolic Syndrome X ×
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: rs9939224
rs9939224 		1.000 0.040 16 56968820 intron variant T/G snv 0.75
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs708272
rs708272 		0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.030 1.000 3 2015 2017
dbSNP: rs1800775
rs1800775 		0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1864163
rs1864163 		0.882 0.120 16 56963321 intron variant G/A snv 0.26
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3816117
rs3816117 		1.000 0.040 16 56962246 5 prime UTR variant T/C snv 0.52
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5882
rs5882 		0.649 0.400 16 56982180 missense variant G/A;C snv 0.62
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs711752
rs711752 		1.000 0.040 16 56962299 splice region variant G/A;C snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017