Disease: Primary congenital glaucoma ×
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: rs121918355
rs121918355 		0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3742793
rs3742793 		1.000 0.120 14 74603790 intron variant G/C snv 0.48
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61738025
rs61738025 		1.000 0.120 14 74552299 synonymous variant C/T snv 6.0E-02 6.4E-02
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016