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: 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: 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: rs165975
rs165975
ABCC1
16 16040137 intron variant T/C snv 0.30
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs16967179
rs16967179
ABCC1
16 15997650 intron variant C/T snv 2.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17264736
rs17264736
ABCC1
16 16022699 intron variant G/T snv 0.45
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs17264736
rs17264736
ABCC1
16 16022699 intron variant G/T snv 0.45
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
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: rs193538
rs193538
ABCC1
16 16034059 intron variant G/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
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: C0024312
Disease: Lymphopenia
Lymphopenia 		0.010 1.000 1 2015 2015
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: rs212090
rs212090
ABCC1
1.000 0.040 16 16142147 3 prime UTR variant T/A snv 0.36
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2017 2017
dbSNP: rs212090
rs212090
ABCC1
1.000 0.040 16 16142147 3 prime UTR variant T/A snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs212090
rs212090
ABCC1
1.000 0.040 16 16142147 3 prime UTR variant T/A snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs212091
rs212091
ABCC1
0.827 0.120 16 16142793 3 prime UTR variant T/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs212091
rs212091
ABCC1
0.827 0.120 16 16142793 3 prime UTR variant T/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs212091
rs212091
ABCC1
0.827 0.120 16 16142793 3 prime UTR variant T/A;C snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2018 2018
dbSNP: rs212091
rs212091
ABCC1
0.827 0.120 16 16142793 3 prime UTR variant T/A;C snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs212091
rs212091
ABCC1
0.827 0.120 16 16142793 3 prime UTR variant T/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2009 2009
dbSNP: rs246214
rs246214
ABCC1
16 16021035 intron variant C/A;T snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2012 2012
dbSNP: rs246221
rs246221
ABCC1
1.000 0.040 16 16044465 synonymous variant T/C;G snv 0.33
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		0.010 1.000 1 2014 2014
dbSNP: rs35605
rs35605
ABCC1
0.925 0.080 16 16068162 synonymous variant T/C snv 0.79 0.84
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs35605
rs35605
ABCC1
0.925 0.080 16 16068162 synonymous variant T/C snv 0.79 0.84
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		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