Source: ALL

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: rs12720066
rs12720066
ABCB1
0.925 0.040 7 87540386 intron variant A/C snv 3.9E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2018 2018
dbSNP: rs12720066
rs12720066
ABCB1
0.925 0.040 7 87540386 intron variant A/C snv 3.9E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2018 2018
dbSNP: rs1404008939
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs1404008939
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 1.000 1 2008 2008
dbSNP: rs1404008939
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2012 2012
dbSNP: rs1404008939
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs3747802
rs3747802
ABCB1 ; RUNDC3B
1.000 0.040 7 87713270 5 prime UTR variant A/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.080 0.875 8 2005 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.080 0.875 8 2007 2018
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.080 0.875 8 2005 2018
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: C0027947
Disease: Neutropenia
Neutropenia 		0.050 1.000 5 2007 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.050 1.000 5 2007 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.040 1.000 4 2006 2013
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.040 1.000 4 2013 2016
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: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.040 0.750 4 2014 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 1.000 4 2002 2019
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: 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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.030 1.000 3 2006 2013
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.030 1.000 3 2015 2017
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.030 0.667 3 2015 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: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.030 0.333 3 2007 2019