TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
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: rs796051880
rs796051880
1.000 0.160 11 89191284 missense variant C/T snv
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs104894314
rs104894314
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001