TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Ocular ×
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: rs104894313
rs104894313 		0.807 0.160 11 89284805 missense variant C/T snv 3.8E-03; 4.0E-06 3.7E-03
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518763
rs1057518763 		1.000 0.160 11 89178026 frameshift variant -/T delins 7.0E-06
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121908011
rs121908011 		0.827 0.160 11 89227933 missense variant G/A snv 9.2E-05 3.5E-05
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs28940877
rs28940877 		0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs376823382
rs376823382 		0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1126809
rs1126809 		0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009