Disease: Albinism, Oculocutaneous ×
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: rs111277962
rs111277962 		1.000 0.160 10 98425641 missense variant C/A snv
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: rs201728087
rs201728087 		1.000 0.160 10 98425590 missense variant C/T snv 2.6E-04 1.5E-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 0.010 1.000 1 2015 2015
dbSNP: rs281865089
rs281865089 		0.925 0.200 10 98420153 stop gained C/G;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 < 0.001 1 2005 2005
dbSNP: rs281865090
rs281865090 		0.925 0.200 10 98417664 missense variant A/G snv
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 < 0.001 1 2005 2005