USH2A, usherin, 7399

N. diseases: 88; N. variants: 327
Disease: Usher Syndrome ×
Source: INFERRED ×
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: rs111033364
rs111033364 		0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.720 1.000 5 2004 2019
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 14 2000 2018
dbSNP: rs111033280
rs111033280 		0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 10 2000 2018
dbSNP: rs397518048
rs397518048 		0.925 0.200 1 215817143 stop gained C/A;G snv 2.4E-05; 4.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2007 2016
dbSNP: rs767078782
rs767078782 		0.882 0.200 1 216246784 stop gained G/C;T snv 1.2E-05 7.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 8 2012 2017
dbSNP: rs80338903
rs80338903 		0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 8 1998 2019
dbSNP: rs369522997
rs369522997 		0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 2000 2016
dbSNP: rs886039450
rs886039450 		0.882 0.200 1 216207401 frameshift variant GT/- delins 2.1E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 2004 2016
dbSNP: rs397518039
rs397518039 		0.851 0.200 1 215877882 splice acceptor variant T/C snv 3.2E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 2008 2015
dbSNP: rs111033367
rs111033367 		0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 1998 2010
dbSNP: rs372347027
rs372347027 		0.925 0.200 1 215867179 intron variant T/C snv 6.8E-05 4.2E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2014 2017
dbSNP: rs375668376
rs375668376 		0.882 0.200 1 216073292 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2013 2015
dbSNP: rs111033518
rs111033518 		0.925 0.200 1 215675619 splice region variant A/T snv 4.0E-06 5.6E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2012 2015
dbSNP: rs111033264
rs111033264 		0.882 0.200 1 215782762 missense variant A/G snv 2.4E-05 6.3E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2008 2019
dbSNP: rs121912599
rs121912599 		0.925 0.200 1 216325492 missense variant C/T snv 6.0E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2000 2016
dbSNP: rs397518022
rs397518022 		0.925 0.200 1 216072887 splice donor variant A/G snv 2.1E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2008 2010
dbSNP: rs786200928
rs786200928 		0.827 0.200 1 215891198 intron variant T/C snv 4.2E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2012 2019
dbSNP: rs137954284
rs137954284 		1.000 0.200 1 216250989 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs201657446
rs201657446 		0.882 0.200 1 215889057 splice region variant G/C snv 1.2E-05 2.8E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs397518043
rs397518043 		0.851 0.200 1 216325524 frameshift variant -/GCTG delins 4.0E-06; 5.6E-05 5.6E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs577938494
rs577938494 		1.000 0.200 1 215675211 missense variant T/C;G snv 1.2E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs727503731
rs727503731 		0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs762159022
rs762159022 		1.000 0.200 1 215674957 stop gained G/A;T snv 4.0E-06 7.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs770553471
rs770553471 		0.882 0.200 1 215648684 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs780308389
rs780308389 		0.882 0.200 1 216325393 missense variant G/A snv 8.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2007 2007