rs2297595, DPYD

N. diseases: 10
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 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.020 1.000 2 2016 2019
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.020 1.000 2 2009 2019
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.020 1.000 2 2009 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2008 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2016 2016
Gastrointestinal mucositis
CUI: C0521585
Disease: Gastrointestinal mucositis
19 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2009 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2008 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2008 2008
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2016 2016
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2009 2009