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: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.020 1.000 2 2016 2019
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.020 1.000 2 2009 2019
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.020 1.000 2 2009 2019
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 1.000 1 2016 2016
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		0.010 1.000 1 2009 2009
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs2297595
rs2297595
DPYD
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2009 2009