Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs115299243
rs115299243
APOE
19 44907291 non coding transcript exon variant A/G snv 7.1E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2018 2019
dbSNP: rs121918395
rs121918395
APOE
19 44909032 missense variant C/A;T snv 6.9E-06; 4.2E-05
CUI: C4015869
Disease: APOE2-DUNEDIN PHENOTYPE
APOE2-DUNEDIN PHENOTYPE 		0.700 0
dbSNP: rs121918398
rs121918398
APOE
19 44909171 missense variant G/A snv 4.5E-06
CUI: C4015878
Disease: APOE4 VARIANT PHENOTYPE
APOE4 VARIANT PHENOTYPE 		0.700 0
dbSNP: rs200703101
rs200703101
APOE
19 44908757 missense variant G/C;T snv
CUI: C4025650
Disease: Abnormality of lipid metabolism
Abnormality of lipid metabolism 		0.700 0
dbSNP: rs28931576
rs28931576
APOE
19 44907894 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C4015877
Disease: APOE3(-)-FREIBURG PHENOTYPE
APOE3(-)-FREIBURG PHENOTYPE 		0.700 0
dbSNP: rs28931578
rs28931578
APOE
19 44908751 missense variant G/A;C;T snv 3.2E-05
CUI: C4015880
Disease: APOE2 VARIANT PHENOTYPE
APOE2 VARIANT PHENOTYPE 		0.700 0
dbSNP: rs28931579
rs28931579
APOE
19 44909236 missense variant A/C snv 9.5E-05 6.3E-05
CUI: C4015881
Disease: APOE4(+) PHENOTYPE
APOE4(+) PHENOTYPE 		0.700 0
dbSNP: rs121918392
rs121918392
APOE
0.925 0.040 19 44907777 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C4479658
Disease: HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 		0.700 0
dbSNP: rs121918394
rs121918394
APOE
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.860 1.000 9 1989 2012
dbSNP: rs201672011
rs201672011
APOE
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 		0.720 1.000 9 1989 2012
dbSNP: rs1081105
rs1081105
APOE
1.000 0.080 19 44909698 non coding transcript exon variant A/C snv 3.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2018 2019
dbSNP: rs121918396
rs121918396
APOE
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 		0.700 0
dbSNP: rs201672011
rs201672011
APOE
1.000 0.080 19 44907807 missense variant G/A snv 1.2E-04 4.8E-04
CUI: C4479660
Disease: APOE5 VARIANT
APOE5 VARIANT 		0.700 0
dbSNP: rs397514253
rs397514253
APOE
1.000 0.080 19 44908531 splice acceptor variant A/G snv
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 0
dbSNP: rs769455
rs769455
APOE
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 		0.760 1.000 9 1989 2014
dbSNP: rs121918393
rs121918393
APOE
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 		0.830 1.000 8 1987 2012
dbSNP: rs121918399
rs121918399
APOE
0.925 0.120 19 44907843 missense variant C/T snv 8.0E-06
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY 		0.820 1.000 4 1997 2014
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs769455
rs769455
APOE
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 1.000 3 2013 2016
dbSNP: rs769455
rs769455
APOE
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 3 2014 2019
dbSNP: rs7259620
rs7259620
APOE
0.925 0.120 19 44904531 upstream gene variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 1.000 2 2013 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2013 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 2 2008 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2018 2019