Source: ALL

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: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0497327
Disease: Dementia
Dementia 		0.010 < 0.001 1 2019 2019
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2009 2009
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2009 2009
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2011 2011
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2019 2019
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
dbSNP: rs449647
rs449647
APOE
0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2011 2011
dbSNP: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2014 2014
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: rs769446
rs769446
APOE
0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 1.000 1 2011 2011
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: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C1862591
Disease: CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO 		0.700 0
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: 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: rs1270059098
rs1270059098
APOE
1.000 0.080 19 44906634 synonymous variant C/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 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: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019
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: 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: 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: 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