Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A ×
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: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 23 1998 2012
dbSNP: rs104893622
rs104893622 		0.925 0.120 2 38071234 missense variant C/T snv
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs104893628
rs104893628 		1.000 0.040 2 38074695 missense variant C/G snv 7.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs104893629
rs104893629 		0.925 0.040 2 38071087 missense variant T/A snv 1.2E-05 7.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs28936700
rs28936700 		0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs28936701
rs28936701 		1.000 0.040 2 38070949 missense variant G/A snv 4.8E-05 3.5E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs55989760
rs55989760 		0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs148542782
rs148542782 		1.000 0.040 2 38071186 missense variant G/A;T snv 2.4E-05; 1.6E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 5 2004 2011
dbSNP: rs79204362
rs79204362 		0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 0
dbSNP: rs1426636145
rs1426636145 		1.000 0.040 2 38074781 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs529769268
rs529769268 		1.000 0.040 2 38074811 missense variant G/A;C snv 1.2E-04; 5.7E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs56010818
rs56010818 		0.925 0.120 2 38071185 missense variant C/T snv 9.2E-05 7.7E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs56175199
rs56175199 		1.000 0.040 2 38071044 missense variant G/A;T snv 8.0E-06; 2.0E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549372
rs72549372 		1.000 0.040 2 38070858 missense variant T/C snv
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549376
rs72549376 		1.000 0.040 2 38071023 missense variant C/G;T snv 1.2E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549378
rs72549378 		1.000 0.040 2 38071158 missense variant A/C snv
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549379
rs72549379 		0.925 0.120 2 38071264 missense variant C/T snv 1.6E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549382
rs72549382 		1.000 0.040 2 38074431 missense variant C/A;G;T snv 3.1E-04; 4.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549384
rs72549384 		1.000 0.040 2 38074745 missense variant C/A;G snv 1.5E-04; 4.9E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs764338357
rs764338357 		1.000 0.040 2 38075046 missense variant C/G;T snv 1.0E-05; 5.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs868208502
rs868208502 		1.000 0.040 2 38070957 missense variant C/T snv
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs777678299
rs777678299 		1.000 0.040 2 38074404 missense variant C/T snv 1.2E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 2 2011 2016
dbSNP: rs1064792896
rs1064792896 		0.925 0.040 2 38071279 frameshift variant CTGCCTGCACTCG/- del
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1558603396
rs1558603396 		1.000 0.040 2 38074606 missense variant G/T snv
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 0
dbSNP: rs4986888
rs4986888 		0.925 0.040 2 38071026 missense variant G/A;C snv 4.4E-03
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 0