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: rs4148737
rs4148737
ABCB1
1.000 0.040 7 87541836 intron variant T/C snv 0.43
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs4148739
rs4148739
ABCB1
1.000 0.040 7 87531733 intron variant T/C snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
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: rs966923314
rs966923314
ABCB1
1.000 0.040 7 87601026 5 prime UTR variant T/C snv 7.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2011 2011
dbSNP: rs1202168
rs1202168
ABCB1
1.000 0.080 7 87566646 intron variant G/A snv 0.39
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2011 2012
dbSNP: rs201661522
rs201661522
ABCB1
1.000 0.080 7 87539293 missense variant A/G snv 6.4E-05 1.0E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2019 2019
dbSNP: rs2214102
rs2214102
ABCB1
0.925 0.080 7 87600185 5 prime UTR variant T/A;C snv 0.95
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2010 2011
dbSNP: rs2214102
rs2214102
ABCB1
0.925 0.080 7 87600185 5 prime UTR variant T/A;C snv 0.95
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2010 2011
dbSNP: rs149518139
rs149518139
ABCB1
0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs149518139
rs149518139
ABCB1
0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs149518139
rs149518139
ABCB1
0.882 0.080 7 87566852 missense variant T/C snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2007 2007
dbSNP: rs201159898
rs201159898
ABCB1
1.000 0.080 7 87549509 missense variant T/A;C snv 1.2E-05 4.9E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs201661522
rs201661522
ABCB1
1.000 0.080 7 87539293 missense variant A/G snv 6.4E-05 1.0E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs2188524
rs2188524
ABCB1
0.882 0.080 7 87601119 intron variant T/C snv 3.2E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2009 2009
dbSNP: rs2188524
rs2188524
ABCB1
0.882 0.080 7 87601119 intron variant T/C snv 3.2E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs2188524
rs2188524
ABCB1
0.882 0.080 7 87601119 intron variant T/C snv 3.2E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs2235013
rs2235013
ABCB1
0.882 0.080 7 87549310 intron variant C/T snv 0.46 0.48
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs2235013
rs2235013
ABCB1
0.882 0.080 7 87549310 intron variant C/T snv 0.46 0.48
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs2235013
rs2235013
ABCB1
0.882 0.080 7 87549310 intron variant C/T snv 0.46 0.48
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs28364274
rs28364274
ABCB1
1.000 0.080 7 87504335 missense variant C/T snv 4.7E-03 4.6E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs3842
rs3842
ABCB1
0.882 0.080 7 87504050 3 prime UTR variant T/C snv 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs3842
rs3842
ABCB1
0.882 0.080 7 87504050 3 prime UTR variant T/C snv 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs3842
rs3842
ABCB1
0.882 0.080 7 87504050 3 prime UTR variant T/C snv 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs3842
rs3842
ABCB1
0.882 0.080 7 87504050 3 prime UTR variant T/C snv 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2009 2009
dbSNP: rs3842
rs3842
ABCB1
0.882 0.080 7 87504050 3 prime UTR variant T/C snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009