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: rs142600685
rs142600685
ABCB1
0.851 0.120 7 87549940 missense variant G/A snv 3.5E-04 4.4E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2013 2013
dbSNP: rs142600685
rs142600685
ABCB1
0.851 0.120 7 87549940 missense variant G/A snv 3.5E-04 4.4E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2013 2013
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: 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: 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: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2014 2014
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 < 0.001 1 2013 2013
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 < 0.001 1 2014 2014
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2007 2007
dbSNP: rs3789243
rs3789243
ABCB1
0.776 0.120 7 87591570 intron variant A/G snv 0.50
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.010 < 0.001 1 2009 2009
dbSNP: rs3789243
rs3789243
ABCB1
0.776 0.120 7 87591570 intron variant A/G snv 0.50
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 < 0.001 1 2011 2011
dbSNP: rs3789243
rs3789243
ABCB1
0.776 0.120 7 87591570 intron variant A/G snv 0.50
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs533117495
rs533117495
ABCB1
0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.010 < 0.001 1 2009 2009
dbSNP: rs6949448
rs6949448
ABCB1
1.000 0.040 7 87512498 intron variant T/C snv 0.63
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 < 0.001 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		0.030 0.333 3 2008 2014
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 0.333 3 2007 2017
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
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.060 0.500 6 2004 2016
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.040 0.500 4 2005 2009
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.040 0.500 4 2003 2015
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0036572
Disease: Seizures
Seizures 		0.040 0.500 4 2006 2014
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.040 0.500 4 2005 2009