rs1057516968, DPYD

N. diseases: 3
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 1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05 0.700 1.000 1 2016 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2016 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2016 2016