Source: BEFREE

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: rs2853578
rs2853578
ABCA1
1.000 0.120 9 104831027 missense variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.810 1.000 1 2008 2008
dbSNP: rs1883025
rs1883025
ABCA1
0.807 0.120 9 104902020 intron variant C/T snv 0.28
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.740 0.600 4 2011 2018
dbSNP: rs137854496
rs137854496
ABCA1
1.000 0.120 9 104831048 missense variant C/A;G snv 5.6E-05; 4.0E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.720 1.000 2 1999 2013
dbSNP: rs137854498
rs137854498
ABCA1
1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.710 1.000 1 1999 2013
dbSNP: rs141021096
rs141021096
ABCA1
1.000 0.120 9 104819690 missense variant G/T snv 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.710 1.000 1 2004 2004
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 0.917 12 2003 2019
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 1.000 11 2003 2019
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.090 0.889 9 2006 2018
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.090 1.000 9 2003 2019
dbSNP: rs2230808
rs2230808
ABCA1
0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.050 0.600 5 2003 2013
dbSNP: rs9282541
rs9282541
ABCA1
0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 1.000 5 2008 2017
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.040 0.750 4 2003 2018
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0028754
Disease: Obesity
Obesity 		0.040 1.000 4 2007 2016
dbSNP: rs9282541
rs9282541
ABCA1
0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03
CUI: C0028754
Disease: Obesity
Obesity 		0.040 1.000 4 2007 2017
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 0.667 3 2015 2018
dbSNP: rs2230806
rs2230806
ABCA1
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 1.000 3 2003 2014
dbSNP: rs4149313
rs4149313
ABCA1
0.763 0.240 9 104824472 missense variant T/C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.030 1.000 3 2013 2019
dbSNP: rs4149313
rs4149313
ABCA1
0.763 0.240 9 104824472 missense variant T/C snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.030 1.000 3 2013 2019
dbSNP: rs4149313
rs4149313
ABCA1
0.763 0.240 9 104824472 missense variant T/C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.030 1.000 3 2013 2019
dbSNP: rs1239681664
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2014 2014
dbSNP: rs1239681664
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.020 0.500 2 2006 2007
dbSNP: rs1239681664
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.020 1.000 2 2014 2014
dbSNP: rs1239681664
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 1.000 2 2006 2007
dbSNP: rs1800976
rs1800976
ABCA1 ; LOC105376196
1.000 0.080 9 104928428 intron variant C/G snv 0.47
CUI: C0028754
Disease: Obesity
Obesity 		0.020 1.000 2 2016 2016
dbSNP: rs2066714
rs2066714
ABCA1
0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 0.500 2 2007 2012