XDH, xanthine dehydrogenase, 7498

N. diseases: 165; N. variants: 24
Disease: Xanthinuria, Type I ×
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: rs72549369
rs72549369 		0.925 0.120 2 31397718 missense variant G/A snv 2.8E-05 4.2E-05
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1997 2003
dbSNP: rs119460972
rs119460972 		1.000 0.080 2 31386525 stop gained G/A;C;T snv 2.0E-05; 8.0E-06; 4.0E-06
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs148412639
rs148412639 		0.925 0.080 2 31373872 splice donor variant C/G;T snv 4.7E-04; 1.2E-05
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553411468
rs1553411468 		1.000 0.080 2 31342262 stop gained G/C snv
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0