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: rs773970123
rs773970123
0.925 0.160 11 89227823 missense variant G/A;T snv 1.2E-05; 8.0E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.700 1.000 1 2005 2005