Disease: Glaucoma 3, Primary Congenital, D ×
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: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		Eye Diseases 0.700 0
dbSNP: rs121918356
rs121918356 		1.000 0.040 14 74611614 stop gained G/A;C snv
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		Eye Diseases 0.700 0
dbSNP: rs137854895
rs137854895 		0.925 0.040 14 74500974 frameshift variant G/- del
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		Eye Diseases 0.700 0
dbSNP: rs1566634475
rs1566634475 		1.000 0.040 14 74551333 frameshift variant G/- delins
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		Eye Diseases 0.700 0
dbSNP: rs1566635134
rs1566635134 		1.000 0.040 14 74552330 frameshift variant GGCACCAGCATTCG/- delins
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		Eye Diseases 0.700 0
dbSNP: rs1566660365
rs1566660365 		1.000 0.040 14 74611533 frameshift variant C/- delins
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		Eye Diseases 0.700 0