Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ×
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: rs587777666
rs587777666 		0.882 0.080 10 68231542 missense variant T/G snv
CUI: C1969783
Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 3 2011 2012
dbSNP: rs587777664
rs587777664 		1.000 0.080 10 68231532 missense variant T/A snv 8.1E-06
CUI: C1969783
Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 2011 2012
dbSNP: rs587777665
rs587777665 		1.000 0.080 10 68231625 frameshift variant G/- delins 4.2E-05
CUI: C1969783
Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0