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: rs10011796
rs10011796
ABCG2
0.882 0.160 4 88169725 intron variant T/C;G snv
CUI: C0221248
Disease: Tophus
Tophus 		0.010 1.000 1 2017 2017
dbSNP: rs1185675198
rs1185675198
ABCG2
0.925 0.080 4 88121789 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2011 2011
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: 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: rs2054576
rs2054576
ABCG2
0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.010 1.000 1 2017 2017
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
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: rs2622621
rs2622621
ABCG2
0.851 0.240 4 88109768 intron variant C/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs2622621
rs2622621
ABCG2
0.851 0.240 4 88109768 intron variant C/A;G snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2019 2019
dbSNP: rs2725264
rs2725264
ABCG2
1.000 0.080 4 88104957 intron variant C/T snv 0.70
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs3114020
rs3114020
ABCG2
0.882 0.200 4 88162514 intron variant T/C snv 0.40
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017
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: rs4148149
rs4148149
ABCG2
1.000 0.080 4 88141133 intron variant T/G snv 0.42
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2015 2015
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: rs757254775
rs757254775
ABCG2
1.000 0.080 4 88101293 missense variant G/T snv 4.0E-06
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		0.010 < 0.001 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: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.800 1.000 10 2010 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 1.000 4 2005 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2005 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.040 1.000 4 2013 2018
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: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.030 1.000 3 2006 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.030 1.000 3 2013 2019
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 0.500 2 2008 2017
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 0.500 2 2008 2017