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: rs28936700
rs28936700 		0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.060 0.833 6 2002 2019
dbSNP: rs79204362
rs79204362 		0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.030 1.000 3 2003 2015
dbSNP: rs104893622
rs104893622 		0.925 0.120 2 38071234 missense variant C/T snv
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 2000 2000
dbSNP: rs104893623
rs104893623 		0.925 0.120 2 38075219 stop gained C/T snv 7.0E-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 2002 2002
dbSNP: rs1272655298
rs1272655298 		1.000 0.120 2 38074527 missense variant C/G;T snv 4.3E-06; 8.6E-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 2015 2015
dbSNP: rs1800440
rs1800440 		0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-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 2006 2006
dbSNP: rs2567206
rs2567206 		0.827 0.200 2 38076389 non coding transcript exon variant G/A snv 0.23
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 2010 2010
dbSNP: rs55989760
rs55989760 		0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04
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 2008 2008
dbSNP: rs56010818
rs56010818 		0.925 0.120 2 38071185 missense variant C/T snv 9.2E-05 7.7E-05
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 2009 2009
dbSNP: rs57865060
rs57865060 		0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03
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 2018 2018
dbSNP: rs72481807
rs72481807 		1.000 0.120 2 38074872 stop gained C/A;T snv 6.9E-06; 6.9E-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 2007 2007
dbSNP: rs72549379
rs72549379 		0.925 0.120 2 38071264 missense variant C/T snv 1.6E-05
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 2010 2010
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
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 2002 2002
dbSNP: rs9282671
rs9282671 		0.851 0.120 2 38075148 missense variant A/T snv 3.6E-03 3.6E-03
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 < 0.001 1 2019 2019