APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
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: rs429358
rs429358 		0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.020 0.500 2 1993 2001
dbSNP: rs11542041
rs11542041 		0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 1993 1993
dbSNP: rs267606661
rs267606661 		0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 1993 1993
dbSNP: rs573658040
rs573658040 		0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000