TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Oculocutaneous ×
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: rs104894314
rs104894314 		0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1991 2008