APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Hyperlipoproteinemia Type III ×
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: rs121918394
rs121918394 		0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.860 1.000 14 1989 2012
dbSNP: rs121918393
rs121918393 		0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.830 1.000 10 1987 2012
dbSNP: rs769455
rs769455 		0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.760 1.000 14 1989 2014
dbSNP: rs387906567
rs387906567 		0.882 0.200 19 44908774 missense variant C/G;T snv 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.730 1.000 12 1989 2012
dbSNP: rs429358
rs429358 		0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.730 1.000 3 1988 1994
dbSNP: rs201672011
rs201672011 		1.000 0.080 19 44907807 missense variant G/A snv 1.2E-04 4.8E-04
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 10 1989 2012
dbSNP: rs121918397
rs121918397 		0.882 0.200 19 44908784 missense variant G/A;C snv 6.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1989 2012
dbSNP: rs121918396
rs121918396 		1.000 0.080 19 44908979 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397514253
rs397514253 		1.000 0.080 19 44908531 splice acceptor variant A/G snv
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs7412
rs7412 		0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs11542041
rs11542041 		0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 1.000 12 1987 2014
dbSNP: rs573658040
rs573658040 		0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 0.900 10 1991 2014
dbSNP: rs11542037
rs11542037 		1.000 0.080 19 44908657 missense variant C/A;T snv 5.2E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1466963971
rs1466963971 		0.925 0.120 19 44908640 missense variant T/G snv 4.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs199768005
rs199768005 		0.882 0.160 19 44909057 missense variant T/A snv 4.5E-04 4.9E-04
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs267606661
rs267606661 		0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs267606664
rs267606664 		0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1992 1992