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: rs61754375
rs61754375 		0.882 0.240 11 89191278 missense variant G/A snv 6.8E-05 6.3E-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 0.010 1.000 1 2018 2018