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: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 < 0.001 1 2007 2007
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.070 1.000 7 2008 2013
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 1.000 4 2008 2013
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.040 1.000 4 2008 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 1.000 3 2008 2019
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 < 0.001 1 2008 2008
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2008 2008
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		0.010 1.000 1 2008 2008
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.020 1.000 2 2009 2013
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2009 2009
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2010 2019
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0392156
Disease: Akathisia
Akathisia 		0.020 1.000 2 2010 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0030193
Disease: Pain
Pain 		0.020 1.000 2 2010 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2010 2019
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 < 0.001 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0520909
Disease: Postoperative Nausea and Vomiting
Postoperative Nausea and Vomiting 		0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.020 1.000 2 2011 2013
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.020 1.000 2 2011 2011
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.010 1.000 1 2011 2011