DPYS, dihydropyrimidinase, 1807

N. diseases: 63; N. variants: 8
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: rs2458413
rs2458413 		0.925 0.080 8 104347204 intron variant C/T snv 0.44
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.820 0.667 3 2010 2019
dbSNP: rs121964923
rs121964923 		1.000 0.080 8 104428071 missense variant T/C snv 4.8E-05 2.1E-05
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1998 2013
dbSNP: rs121964924
rs121964924 		1.000 0.080 8 104427994 missense variant A/G snv 5.2E-05 4.2E-05
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1998 2013
dbSNP: rs267606773
rs267606773 		1.000 0.080 8 104392924 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1998 2013
dbSNP: rs200913682
rs200913682 		1.000 0.080 8 104429590 missense variant C/A;T snv 4.0E-06; 5.2E-05
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2010 2017
dbSNP: rs201258823
rs201258823 		1.000 0.080 8 104424345 missense variant G/T snv 9.2E-05 1.6E-04
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2017
dbSNP: rs2458413
rs2458413 		0.925 0.080 8 104347204 intron variant C/T snv 0.44
CUI: C1368019
Disease: Paget Disease
Paget Disease 		Neoplasms 0.700 1.000 2 2010 2011
dbSNP: rs267606774
rs267606774 		1.000 0.080 8 104424247 missense variant C/A snv
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs62620995
rs62620995 		1.000 0.040 8 104355036 missense variant C/T snv 8.7E-03 9.3E-03
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017