PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Optic Nerve Hypoplasia, Bilateral ×
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: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907926
rs121907926 		0.925 0.080 11 31790722 missense variant T/C snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs886041222
rs886041222 		0.776 0.280 11 31793787 stop gained G/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907924
rs121907924 		1.000 0.080 11 31794699 stop gained G/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0