Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT ×
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: rs80356525
rs80356525 		0.882 0.200 19 45553741 stop gained G/A;C snv
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2004 2015
dbSNP: rs80356524
rs80356524 		0.882 0.200 19 45553777 missense variant C/T snv
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2004 2004
dbSNP: rs80356523
rs80356523 		0.925 0.200 19 45553912 splice acceptor variant C/G snv
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2001 2015
dbSNP: rs886037828
rs886037828 		1.000 0.120 19 45553819 missense variant G/C snv
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0