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: rs28940881
rs28940881 		0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-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 0
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: rs61754381
rs61754381 		0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 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 0
dbSNP: rs104894313
rs104894313 		0.807 0.160 11 89284805 missense variant C/T snv 3.8E-03; 4.0E-06 3.7E-03
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: rs28940877
rs28940877 		0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-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: rs121908011
rs121908011 		0.827 0.160 11 89227933 missense variant G/A snv 9.2E-05 3.5E-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 22 1990 2014
dbSNP: rs28940876
rs28940876 		0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-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 0.810 1.000 21 1990 2014
dbSNP: rs61754388
rs61754388 		0.827 0.160 11 89227904 missense variant C/A snv 3.4E-04 5.0E-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 0.710 1.000 9 1990 2013
dbSNP: rs62645904
rs62645904 		0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-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 0.700 0
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: rs61753185
rs61753185 		0.882 0.160 11 89178183 missense variant G/A snv 8.4E-05 5.6E-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 0.810 1.000 25 1990 2015
dbSNP: rs61753180
rs61753180 		0.882 0.160 11 89178093 missense variant G/A snv 1.6E-04 2.8E-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 0.810 1.000 21 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: rs61753256
rs61753256 		0.882 0.160 11 89178299 stop gained C/A;T snv 4.0E-06; 2.4E-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 0
dbSNP: rs61754375
rs61754375 		0.882 0.240 11 89191278 missense variant G/A snv 6.8E-05 6.3E-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 0
dbSNP: rs62645916
rs62645916 		0.882 0.160 11 89284787 stop gained G/A;T snv 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 0.700 0
dbSNP: rs63159160
rs63159160 		0.882 0.160 11 89178602 missense variant C/G;T snv 4.0E-06; 1.8E-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 0.700 0
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: 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: rs104894317
rs104894317 		0.925 0.160 11 89284924 missense variant G/A snv 4.0E-05 1.1E-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: rs61753253
rs61753253 		0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-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: rs61754392
rs61754392 		0.925 0.160 11 89284843 missense variant G/A snv 6.4E-05 7.0E-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: rs750553908
rs750553908 		0.925 0.160 11 89178546 missense variant T/C snv 4.0E-06 1.4E-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: 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: rs1207709557
rs1207709557 		0.925 0.160 11 89227896 missense variant G/A 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 0