Source: BEFREE

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: rs1801158
rs1801158
DPYD
0.925 0.160 1 97515865 missense variant C/T snv 1.5E-02 1.4E-02
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.020 0.500 2 2007 2015
dbSNP: rs1801158
rs1801158
DPYD
0.925 0.160 1 97515865 missense variant C/T snv 1.5E-02 1.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2017 2017