rs1801265, DPYD

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dihydropyrimidine Dehydrogenase Deficiency
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
62 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.710 1.000 1 2019 2019
Body mass index
CUI: C1305855
Disease: Body mass index
2689 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.700 1.000 1 2018 2018
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
261 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.020 1.000 2 2016 2017
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2017 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2017 2017
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2015 2015
Gastrointestinal mucositis
CUI: C0521585
Disease: Gastrointestinal mucositis
19 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2013 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2019 2019
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
Precursor Cell Lymphoblastic Leukemia Lymphoma
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
168 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2017 2017
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009