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: rs1305398818
rs1305398818
ABCG2
0.925 0.080 4 88131886 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1305398818
rs1305398818
ABCG2
0.925 0.080 4 88131886 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2013 2013
dbSNP: rs1305398818
rs1305398818
ABCG2
0.925 0.080 4 88131886 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs1305398818
rs1305398818
ABCG2
0.925 0.080 4 88131886 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013
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: rs199976573
rs199976573
ABCG2
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2011 2011
dbSNP: rs199976573
rs199976573
ABCG2
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs199976573
rs199976573
ABCG2
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs199976573
rs199976573
ABCG2
0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2011 2011
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: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		0.010 < 0.001 1 2018 2018
dbSNP: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2016 2016
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: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0744466
Disease: gout tophaceous
gout tophaceous 		0.010 1.000 1 2014 2014
dbSNP: rs2231137
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02
CUI: C0018099
Disease: Gout
Gout 		0.010 1.000 1 2014 2014
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: 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: 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