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: rs115299243
rs115299243
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: rs142480126
rs142480126
19 44907825 missense variant G/A snv 8.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.020 1.000 2 2009 2009
dbSNP: rs11542035
rs11542035
19 44908706 missense variant G/A snv 1.9E-05 2.8E-05
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 1.000 1 1995 1995
dbSNP: rs121918395
rs121918395
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
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
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
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
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
19 44909236 missense variant A/C snv 9.5E-05 6.3E-05
CUI: C4015881
Disease: APOE4(+) PHENOTYPE
APOE4(+) PHENOTYPE
0.700 0
dbSNP: rs1050106163
rs1050106163
1.000 0.040 19 44908618 missense variant C/T snv 7.0E-06
Retinitis punctata albescens (disorder)
0.010 1.000 1 1996 1996
dbSNP: rs121918392
rs121918392
0.925 0.040 19 44907777 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.010 1.000 1 2002 2002
dbSNP: rs1335550286
rs1335550286
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
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: rs121918392
rs121918392
0.925 0.040 19 44907777 missense variant G/A snv 3.6E-05 7.0E-06
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
0.700 0
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
0.860 1.000 14 1989 2012
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
0.720 1.000 10 1989 2012
dbSNP: rs1081105
rs1081105
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
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
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: rs11542029
rs11542029
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
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
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: rs121918394
rs121918394
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 1.000 1 2000 2000
dbSNP: rs121918394
rs121918394
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
CUI: C2047520
Disease: Mixed hyperlipidemia (disorder)
Mixed hyperlipidemia (disorder)
0.010 1.000 1 2017 2017
dbSNP: rs121918394
rs121918394
0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06
Premature coronary artery atherosclerosis
0.010 1.000 1 2017 2017