Disease: Oculocutaneous albinism type 6 ×
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: rs1555452572
rs1555452572 		1.000 0.160 15 48134915 missense variant G/A snv
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555452574
rs1555452574 		1.000 0.160 15 48134922 stop gained T/A snv
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs772398324
rs772398324 		1.000 0.160 15 48136733 frameshift variant T/- del 2.8E-05
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886037643
rs886037643 		1.000 0.160 15 48136683 stop gained G/A snv
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886037644
rs886037644 		1.000 0.160 15 48142202 frameshift variant -/T delins
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0