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: rs62645904
rs62645904
0.827 0.160 11 89191214 stop gained C/A;T snv 1.9E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.730 0.909 11 1993 2016
dbSNP: rs28940876
rs28940876
0.827 0.160 11 89178195 missense variant C/T snv 8.4E-05 1.7E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.710 1.000 5 1990 2008
dbSNP: rs104894313
rs104894313
0.807 0.160 11 89284805 missense variant C/T snv 3.8E-03; 4.0E-06 3.7E-03
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 17 1991 2017
dbSNP: rs61754381
rs61754381
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 13 1997 2017
dbSNP: rs61754388
rs61754388
0.827 0.160 11 89227904 missense variant C/A snv 3.4E-04 5.0E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 9 1990 2011
dbSNP: rs28940879
rs28940879
0.851 0.160 11 89178117 missense variant G/A;C snv 4.0E-06
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1995 2015
dbSNP: rs104894314
rs104894314
0.790 0.160 11 89191205 missense variant G/A;T snv 8.0E-06; 9.2E-05
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1991 2008
dbSNP: rs61754365
rs61754365
0.925 0.160 11 89178603 missense variant G/A;C;T snv 2.6E-04; 1.2E-05
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2005 2009
dbSNP: rs104894317
rs104894317
0.925 0.160 11 89284924 missense variant G/A snv 4.0E-05 1.1E-04
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2003 2008
dbSNP: rs1207709557
rs1207709557
0.925 0.160 11 89227896 missense variant G/A snv 8.0E-06
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
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: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs538081629
rs538081629
1.000 0.160 11 89178674 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs61754375
rs61754375
0.882 0.240 11 89191278 missense variant G/A snv 6.8E-05 6.3E-05
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61754392
rs61754392
0.925 0.160 11 89284843 missense variant G/A snv 6.4E-05 7.0E-06
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs750553908
rs750553908
0.925 0.160 11 89178546 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014