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: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		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: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		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: C0268109
Disease: Chronic tophaceous gout
Chronic tophaceous gout 		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: 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: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		0.010 1.000 1 2018 2018
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		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: C0149896
Disease: Primary gout
Primary gout 		0.010 1.000 1 2019 2019
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: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0744466
Disease: gout tophaceous
gout tophaceous 		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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		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: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 1.000 1 2006 2006
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		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: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma 		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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016
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: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2019 2019
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: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2007 2007
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0007134
Disease: Renal Cell Carcinoma
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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.010 1.000 1 2018 2018
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