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: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.030 1.000 3 2014 2018
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 1.000 2 2011 2014
dbSNP: rs1294780786
rs1294780786
ABCG1
0.925 0.080 21 42282350 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs1294780786
rs1294780786
ABCG1
0.925 0.080 21 42282350 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs1378577
rs1378577
ABCG1
1.000 0.080 21 42199555 upstream gene variant T/G snv 0.33
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2015 2015
dbSNP: rs1378577
rs1378577
ABCG1
1.000 0.080 21 42199555 upstream gene variant T/G snv 0.33
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2015 2015
dbSNP: rs1445295054
rs1445295054
ABCG1
0.925 0.080 21 42282356 missense variant G/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs1445295054
rs1445295054
ABCG1
0.925 0.080 21 42282356 missense variant G/A;T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs182694
rs182694
ABCG1
1.000 0.040 21 42278705 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
dbSNP: rs2234714
rs2234714
ABCG1 ; LOC105372814
1.000 0.040 21 42218507 intron variant G/A snv 0.33
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 < 0.001 1 2011 2011
dbSNP: rs225396
rs225396
ABCG1
0.925 0.040 21 42267244 intron variant C/T snv 0.45
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.010 1.000 1 2016 2016
dbSNP: rs225396
rs225396
ABCG1
0.925 0.040 21 42267244 intron variant C/T snv 0.45
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2016 2016
dbSNP: rs492338
rs492338
ABCG1
21 42281867 intron variant A/G snv 0.52
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2014 2014
dbSNP: rs492338
rs492338
ABCG1
21 42281867 intron variant A/G snv 0.52
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2014 2014
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2015 2015
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2011 2011
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2014 2014
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2014 2014
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2015 2015
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
0.776 0.160 21 42218908 intron variant G/A snv 0.14
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.010 1.000 1 2016 2016
dbSNP: rs750249283
rs750249283
ABCG1
0.925 0.080 21 42296256 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 1.000 1 2012 2012
dbSNP: rs750249283
rs750249283
ABCG1
0.925 0.080 21 42296256 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2012 2012