CETP, cholesteryl ester transfer protein, 1071

N. diseases: 188; N. variants: 88
Disease: Age related macular degeneration ×
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: rs17231506
rs17231506 		0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2016 2019
dbSNP: rs5817082
rs5817082 		0.851 0.040 16 56963437 intron variant -/A delins
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2303790
rs2303790 		0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2015 2018
dbSNP: rs5882
rs5882 		0.649 0.400 16 56982180 missense variant G/A;C snv 0.62
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs708272
rs708272 		0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017