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: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2018 2019
dbSNP: rs769450
rs769450
APOE
0.925 0.120 19 44907187 non coding transcript exon variant G/A snv 0.39
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs769450
rs769450
APOE
0.925 0.120 19 44907187 non coding transcript exon variant G/A snv 0.39
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs449647
rs449647
APOE
0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.730 1.000 1 2009 2018
dbSNP: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.740 1.000 1 2009 2018
dbSNP: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.710 1.000 1 2014 2014
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.700 1.000 1 2012 2012
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2017 2017
dbSNP: rs769449
rs769449
APOE
0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs769450
rs769450
APOE
0.925 0.120 19 44907187 non coding transcript exon variant G/A snv 0.39
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs769450
rs769450
APOE
0.925 0.120 19 44907187 non coding transcript exon variant G/A snv 0.39
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2019 2019
dbSNP: rs769455
rs769455
APOE
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2014 2014
dbSNP: rs267606664
rs267606664
APOE
0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 0
dbSNP: rs769452
rs769452
APOE
0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 1.000 3 2013 2016
dbSNP: rs769452
rs769452
APOE
0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2019 2019
dbSNP: rs515726148
rs515726148
APOE
1.000 0.160 19 44908792 inframe deletion TCC/- delins 2.8E-05
CUI: C0036489
Disease: Sea-Blue Histiocyte Syndrome
Sea-Blue Histiocyte Syndrome 		0.700 0
dbSNP: rs121918397
rs121918397
APOE
0.882 0.200 19 44908784 missense variant G/A;C snv 6.5E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 1.000 9 1989 2012
dbSNP: rs387906567
rs387906567
APOE
0.882 0.200 19 44908774 missense variant C/G;T snv 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.730 1.000 9 1989 2012
dbSNP: rs121918397
rs121918397
APOE
0.882 0.200 19 44908784 missense variant G/A;C snv 6.5E-06
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY 		0.830 1.000 4 1997 2007
dbSNP: rs440446
rs440446
APOE
0.807 0.200 19 44905910 missense variant C/G;T snv 0.60
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs440446
rs440446
APOE
0.807 0.200 19 44905910 missense variant C/G;T snv 0.60
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 0.950 9 2009 2019