USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Usher syndrome type 2 ×
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: rs111033334
rs111033334 		0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2007 2007
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2014 2014
dbSNP: rs80338904
rs80338904 		0.882 0.200 1 215671085 missense variant T/C;G snv
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2007 2007
dbSNP: rs111033280
rs111033280 		0.851 0.200 1 216327637 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033364
rs111033364 		0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553250184
rs1553250184 		0.882 0.200 1 215648686 stop gained G/T snv
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553258097
rs1553258097 		0.882 0.200 1 216422097 frameshift variant -/GTAC delins
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201527662
rs201527662 		0.827 0.200 1 216246592 missense variant A/C snv 2.1E-04 6.3E-05
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397517963
rs397517963 		0.882 0.200 1 216325448 missense variant G/A;C snv 5.6E-05
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397517978
rs397517978 		0.882 0.200 1 215680378 splice acceptor variant T/C snv 8.4E-05 1.4E-05
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397518048
rs397518048 		0.925 0.200 1 215817143 stop gained C/A;G snv 2.4E-05; 4.0E-06
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs770383273
rs770383273 		0.882 0.200 1 215878763 splice donor variant C/A;T snv
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786200928
rs786200928 		0.827 0.200 1 215891198 intron variant T/C snv 4.2E-05
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338903
rs80338903 		0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs876657731
rs876657731 		0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0