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
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 20 2009 2019
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.890 0.933 15 2005 2019
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: rs769455
rs769455
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.760 1.000 14 1989 2014
dbSNP: rs11542041
rs11542041
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.100 1.000 12 1987 2014
dbSNP: rs387906567
rs387906567
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 12 1989 2012
dbSNP: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
Low density lipoprotein cholesterol measurement
0.800 1.000 12 2010 2019
dbSNP: rs121918393
rs121918393
0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.830 1.000 10 1987 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: rs573658040
rs573658040
0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.100 0.900 10 1991 2014
dbSNP: rs121918397
rs121918397
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: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 9 2012 2019
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.700 1.000 8 1997 2016
dbSNP: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.730 1.000 6 2012 2019
dbSNP: rs121918397
rs121918397
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 5 1997 2007
dbSNP: rs121918399
rs121918399
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
dbSNP: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.720 1.000 5 2011 2019
dbSNP: rs769446
rs769446
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 5 2009 2018
dbSNP: rs11542041
rs11542041
0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.040 0.750 4 1984 2004
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.040 0.750 4 1994 2019
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
High density lipoprotein measurement
0.700 1.000 4 2015 2018
dbSNP: rs429358
rs429358
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.040 0.750 4 1993 2004
dbSNP: rs449647
rs449647
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 4 2009 2018
dbSNP: rs7412
rs7412
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
High density lipoprotein measurement
0.700 1.000 4 2017 2019
dbSNP: rs769449
rs769449
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