APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Hypercholesterolemia ×
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: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.100 0.917 12 1991 2018
dbSNP: rs12713559
rs12713559 		0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.040 1.000 4 1997 2000
dbSNP: rs144467873
rs144467873 		0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 1997 1999
dbSNP: rs693
rs693 		0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs777249279
rs777249279 		0.925 0.080 2 21006422 missense variant G/A;T snv 4.0E-06 7.0E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 1997 1997