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
dbSNP: rs111699024
rs111699024 		0.925 0.120 10 68231485 missense variant T/C;G snv 8.7E-03; 8.8E-06
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs111699024
rs111699024 		0.925 0.120 10 68231485 missense variant T/C;G snv 8.7E-03; 8.8E-06
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs111699024
rs111699024 		0.925 0.120 10 68231485 missense variant T/C;G snv 8.7E-03; 8.8E-06
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587777666
rs587777666 		0.882 0.080 10 68231542 missense variant T/G snv
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587777666
rs587777666 		0.882 0.080 10 68231542 missense variant T/G snv
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61854782
rs61854782 		0.925 0.040 10 68231992 5 prime UTR variant T/G snv 0.14
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61854782
rs61854782 		0.925 0.040 10 68231992 5 prime UTR variant T/G snv 0.14
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7916697
rs7916697 		1.000 0.040 10 68232096 5 prime UTR variant A/G snv 0.59
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2012 2012