TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Autosomal recessive ocular albinism ×
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: rs1126809
rs1126809 		0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2009