Disease: Hydrophthalmos ×
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: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.030 1.000 3 2003 2011
dbSNP: rs1221648356
rs1221648356 		0.851 0.080 2 38071245 frameshift variant G/- delins
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs72549381
rs72549381 		0.925 0.080 2 38071291 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs745378110
rs745378110 		0.851 0.080 2 38071247 frameshift variant C/- del
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs780002791
rs780002791 		0.882 0.080 2 38075306 missense variant G/C snv 2.5E-05 4.2E-05
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs79204362
rs79204362 		0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019