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: 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 10 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: rs1440976751
rs1440976751
APOE
1.000 0.080 19 44907789 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2006 2008
dbSNP: rs777551553
rs777551553
APOE
1.000 0.080 19 44906639 stop gained G/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 1.000 2 2009 2015
dbSNP: rs1050106163
rs1050106163
APOE
1.000 0.040 19 44908618 missense variant C/T snv 7.0E-06
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.010 1.000 1 1996 1996
dbSNP: rs11542029
rs11542029
APOE
1.000 0.080 19 44907864 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2015 2015
dbSNP: rs11542037
rs11542037
APOE
1.000 0.080 19 44908657 missense variant C/A;T snv 5.2E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.010 1.000 1 1996 1996
dbSNP: rs1167428194
rs1167428194
APOE
1.000 0.080 19 44908634 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2012 2012
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: rs1275147925
rs1275147925
APOE
1.000 0.080 19 44906613 missense variant A/G snv 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2006 2006
dbSNP: rs1335550286
rs1335550286
APOE
1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2014 2014
dbSNP: rs1335550286
rs1335550286
APOE
1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 1.000 1 2014 2014
dbSNP: rs1424027593
rs1424027593
APOE
1.000 0.080 19 44908639 missense variant C/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs1438607869
rs1438607869
APOE
1.000 0.080 19 44908741 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2012 2012
dbSNP: rs1458301734
rs1458301734
APOE
1.000 0.080 19 44908687 missense variant G/A;T snv 5.9E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2004 2004
dbSNP: rs533904656
rs533904656
APOE
1.000 0.080 19 44907768 missense variant G/A;C snv 1.8E-04; 8.2E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2008 2008
dbSNP: rs759721023
rs759721023
APOE
1.000 0.080 19 44908936 missense variant G/A snv 8.4E-05 6.3E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2016 2016
dbSNP: rs779569800
rs779569800
APOE
1.000 0.080 19 44908714 missense variant G/A;C;T snv 1.3E-05; 6.3E-06; 6.3E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.010 < 0.001 1 1997 1997
dbSNP: rs868094551
rs868094551
APOE
1.000 0.080 19 44908768 missense variant C/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2004 2004
dbSNP: rs981058595
rs981058595
APOE
1.000 0.080 19 44908847 missense variant C/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 < 0.001 1 2014 2014
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: 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: 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 5 1997 2014