TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE ×
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: C1847132
Disease: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs61754393
rs61754393 		0.882 0.160 11 89284853 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C1847132
Disease: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0