PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Coloboma of optic disc ×
Source: CURATED ×
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: rs121907925
rs121907925 		0.882 0.080 11 31793795 missense variant A/G snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2003 2003
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907923
rs121907923 		1.000 0.080 11 31801716 missense variant G/A snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886041222
rs886041222 		0.776 0.280 11 31793787 stop gained G/A snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0