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.
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.040 1.000 4 2009 2019
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.040 1.000 4 2009 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.010 1.000 1 2017 2017
Dihydropyrimidine Dehydrogenase Deficiency
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
62 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.010 1.000 1 2016 2016
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.010 1.000 1 2017 2017
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.010 1.000 1 2016 2016