HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 83; N. variants: 3
Disease: Hawkinsinuria ×
Source: BEFREE ×
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: rs1154510
rs1154510 		1.000 0.120 12 121857429 missense variant T/C snv 0.85 0.88
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2000 2016
dbSNP: rs1276998235
rs1276998235 		0.925 0.120 12 121847089 missense variant T/C snv 7.0E-06
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs780501941
rs780501941 		1.000 0.120 12 121847177 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016