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: 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: 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: rs1013801316
rs1013801316 		1.000 0.160 11 89191418 stop gained G/A;T 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 0
dbSNP: rs367543066
rs367543066 		0.925 0.160 11 89178504 stop gained C/G;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 0.700 0
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: rs61754360
rs61754360 		1.000 0.160 11 89178486 stop gained 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
dbSNP: rs61754367
rs61754367 		1.000 0.160 11 89178660 stop gained G/A;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 0.800 0
dbSNP: rs61754368
rs61754368 		1.000 0.160 11 89178682 stop gained TG/- delins
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: 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: 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: rs62645917
rs62645917 		1.000 0.160 11 89284792 stop gained C/T snv 4.0E-05 4.2E-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 0
dbSNP: rs765329261
rs765329261 		1.000 0.160 11 89178706 stop gained C/A;T snv 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: rs797046083
rs797046083 		1.000 0.160 11 89178611 stop gained C/T snv 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 0
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: 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: 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: 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: 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: 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: 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: 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: 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