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: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs3114020
rs3114020
ABCG2
0.882 0.200 4 88162514 intron variant T/C snv 0.40
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.810 1.000 1 2008 2019
dbSNP: rs6857600
rs6857600
ABCG2
0.925 0.120 4 88144923 intron variant C/T snv 0.28
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 1.000 1 2012 2012
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2007 2016
dbSNP: rs1185675198
rs1185675198
ABCG2
0.925 0.080 4 88121789 missense variant C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2009 2009
dbSNP: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2009 2009
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0268109
Disease: Chronic tophaceous gout
Chronic tophaceous gout 		0.010 1.000 1 2014 2014
dbSNP: rs1481012
rs1481012
ABCG2
0.882 0.200 4 88117930 intron variant A/G snv 8.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2622621
rs2622621
ABCG2
0.851 0.240 4 88109768 intron variant C/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2019 2019
dbSNP: rs4148152
rs4148152
ABCG2
1.000 0.040 4 88139757 intron variant T/C snv 0.11 7.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2015 2015
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2009 2009
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 1.000 1 2013 2013
dbSNP: rs2199936
rs2199936
ABCG2
0.882 0.160 4 88124179 intron variant A/G;T snv 0.88
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2016 2016
dbSNP: rs2199936
rs2199936
ABCG2
0.882 0.160 4 88124179 intron variant A/G;T snv 0.88
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2016 2016