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: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2
0.800 0
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: 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: rs121918396
rs121918396
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: 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: rs201672011
rs201672011
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: rs267606664
rs267606664
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: 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: rs397514253
rs397514253
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: rs405509
rs405509
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs515726148
rs515726148
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: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.700 0
dbSNP: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0523744
Disease: Lipids measurement
Lipids measurement
0.800 1.000 1 2012 2012
dbSNP: rs769449
rs769449
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: rs405509
rs405509
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 1.000 1 2012 2012
dbSNP: rs405509
rs405509
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2013 2013
dbSNP: rs405509
rs405509
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs405509
rs405509
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2009 2009
dbSNP: rs405509
rs405509
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: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C1285654
Disease: Memory performance
Memory performance
0.700 1.000 1 2018 2018
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular
0.700 1.000 1 2019 2019
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
0.700 1.000 1 2016 2016