TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Oculocutaneous albinism type 1A ×
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: rs281865325
rs281865325 		0.925 0.160 11 89284880 missense variant C/A;T snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.710 1.000 21 1990 2014
dbSNP: rs104894314
rs104894314 		0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs104894315
rs104894315 		1.000 0.160 11 89227932 missense variant C/A;T snv 4.0E-06; 6.8E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs104894316
rs104894316 		0.925 0.160 11 89284797 missense variant G/A;T snv 4.0E-06; 3.6E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs104894318
rs104894318 		1.000 0.160 11 89284930 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs1362285246
rs1362285246 		1.000 0.160 11 89284865 missense variant T/A;C snv 8.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs137854890
rs137854890 		1.000 0.160 11 89178225 missense variant G/A snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs151206295
rs151206295 		1.000 0.160 11 89227850 missense variant C/G;T snv 1.6E-05; 1.4E-04
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs28940878
rs28940878 		1.000 0.160 11 89178078 missense variant A/G snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs28940879
rs28940879 		0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs28940880
rs28940880 		1.000 0.160 11 89178569 missense variant G/A snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1990 2014
dbSNP: rs544053015
rs544053015 		1.000 0.160 11 89178189 missense variant C/T snv 8.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs61753177
rs61753177 		1.000 0.160 11 89178010 missense variant T/A;C snv 1.2E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs61753179
rs61753179 		1.000 0.160 11 89178060 missense variant G/A snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs61753181
rs61753181 		1.000 0.160 11 89178102 stop gained C/G;T snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs61753252
rs61753252 		1.000 0.160 11 89178242 missense variant G/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs61753259
rs61753259 		1.000 0.160 11 89178479 missense variant T/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs61754393
rs61754393 		0.882 0.160 11 89284853 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs752344007
rs752344007 		1.000 0.160 11 89227970 missense variant G/A snv 4.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs774670098
rs774670098 		1.000 0.160 11 89178668 missense variant C/A;T snv 8.0E-06; 2.8E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1990 2014
dbSNP: rs61754374
rs61754374 		1.000 0.160 11 89191277 missense variant C/A;T snv 2.8E-05; 1.6E-05
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2003 2008
dbSNP: rs1565386964
rs1565386964 		1.000 0.160 11 89178667 stop gained G/A snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2011 2011
dbSNP: rs61754363
rs61754363 		1.000 0.160 11 89178599 missense variant T/A;C snv 1.6E-05; 8.0E-06
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.810 1.000 1 1993 1993
dbSNP: rs61754378
rs61754378 		0.925 0.160 11 89191320 missense variant C/G snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61754385
rs61754385 		1.000 0.160 11 89227895 missense variant T/C snv
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 2013 2013