DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801160
rs1801160
0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.040 1.000 4 2009 2019
dbSNP: rs67376798
rs67376798
0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.030 1.000 3 2014 2019
dbSNP: rs2297595
rs2297595
0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2019
dbSNP: rs17376848
rs17376848
0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1801265
rs1801265
0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3918290
rs3918290
0.882 0.080 1 97450058 splice donor variant C/G;T snv 8.0E-06; 5.6E-03
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017