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: 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: 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: 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: rs72552713
rs72552713
ABCG2
0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		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: 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: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.030 1.000 3 2007 2017
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: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.020 1.000 2 2009 2018
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