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: rs17501331
rs17501331
ABCC1
0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2018 2018
dbSNP: rs17501331
rs17501331
ABCC1
0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2018 2018
dbSNP: rs35628
rs35628
ABCC1
1.000 0.080 16 16077249 intron variant A/G snv 0.13
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs3887412
rs3887412
ABCC1
16 16081173 intron variant A/T snv 0.25
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2010 2010
dbSNP: rs3887412
rs3887412
ABCC1
16 16081173 intron variant A/T snv 0.25
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2010 2010
dbSNP: rs2074087
rs2074087
ABCC1
0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2013 2013
dbSNP: rs2074087
rs2074087
ABCC1
0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2013 2013
dbSNP: rs2074087
rs2074087
ABCC1
0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.010 1.000 1 2015 2015
dbSNP: rs504348
rs504348
ABCC1 ; LOC107984869
1.000 0.120 16 15949317 upstream gene variant C/G;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 1.000 1 2017 2017
dbSNP: rs3784867
rs3784867
ABCC1
1.000 0.040 16 16109488 intron variant C/T snv 0.25
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.010 1.000 1 2019 2019
dbSNP: rs41494447
rs41494447
ABCC1
0.925 0.080 16 16007985 missense variant C/T snv 4.4E-04 2.2E-04
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs41494447
rs41494447
ABCC1
0.925 0.080 16 16007985 missense variant C/T snv 4.4E-04 2.2E-04
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2019 2019
dbSNP: rs4148356
rs4148356
ABCC1
0.851 0.120 16 16083418 missense variant G/A snv 2.3E-02 1.3E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2011 2011
dbSNP: rs4148356
rs4148356
ABCC1
0.851 0.120 16 16083418 missense variant G/A snv 2.3E-02 1.3E-02
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
dbSNP: rs4148356
rs4148356
ABCC1
0.851 0.120 16 16083418 missense variant G/A snv 2.3E-02 1.3E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2011 2011
dbSNP: rs4148356
rs4148356
ABCC1
0.851 0.120 16 16083418 missense variant G/A snv 2.3E-02 1.3E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2011 2011
dbSNP: rs41395947
rs41395947
ABCC1
0.925 0.080 16 16007895 missense variant G/C snv 2.0E-05 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2019 2019
dbSNP: rs41395947
rs41395947
ABCC1
0.925 0.080 16 16007895 missense variant G/C snv 2.0E-05 7.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2019 2019
dbSNP: rs1260186456
rs1260186456
ABCC1
0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2016 2016
dbSNP: rs1260186456
rs1260186456
ABCC1
0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2016 2016
dbSNP: rs4148350
rs4148350
ABCC1
1.000 0.040 16 16076620 intron variant G/T snv 7.5E-02
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		0.010 1.000 1 2014 2014
dbSNP: rs45511401
rs45511401
ABCC1
0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs45511401
rs45511401
ABCC1
0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
dbSNP: rs45511401
rs45511401
ABCC1
0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs45511401
rs45511401
ABCC1
0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2011 2011