rs2231142, ABCG2

N. diseases: 56
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Chronic tophaceous gout
CUI: C0268109
Disease: Chronic tophaceous gout
1 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2014 2014
gout tophaceous
CUI: C0744466
Disease: gout tophaceous
3 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2014 2014
Tophus
CUI: C0221248
Disease: Tophus
3 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2017 2017
androgen independent prostate cancer
5 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2008 2008
Primary gout
CUI: C0149896
Disease: Primary gout
5 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
Malignant neoplasm of stomach stage IV
7 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2018 2018
Metastatic Renal Cell Cancer
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
9 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2013 2013
Metastatic Renal Cell Carcinoma
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
9 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2013 2013
Heart Septal Defects
CUI: C0018816
Disease: Heart Septal Defects
12 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2014 2014
Nausea
CUI: C0027497
Disease: Nausea
14 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2018 2018
Gastrointestinal mucositis
CUI: C0521585
Disease: Gastrointestinal mucositis
19 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1 2014 2014
Skin toxicity
CUI: C1167791
Disease: Skin toxicity
24 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1 2018 2018
Peptic Ulcer
CUI: C0030920
Disease: Peptic Ulcer
25 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2016 2016
Hormone refractory prostate cancer
CUI: C1328504
Disease: Hormone refractory prostate cancer
29 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2006 2006
Lesch-Nyhan Syndrome
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
32 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2018 2018
Adult Diffuse Large B-Cell Lymphoma
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
46 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2008 2008
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.030 1.000 3 2006 2019
Kidney Calculi
CUI: C0022650
Disease: Kidney Calculi
71 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
Hyperuricemia
CUI: C0740394
Disease: Hyperuricemia
76 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 10 2010 2019
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2007 2007
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2016 2016
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.040 1.000 4 2013 2018
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.020 1.000 2 2007 2008
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2007 2007