USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
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: rs1453306308
rs1453306308 		1.000 0.200 1 215837992 missense variant T/C snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs145771342
rs145771342 		1.000 0.200 1 215628906 missense variant G/A snv 7.7E-04 5.0E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs182741276
rs182741276 		1.000 0.200 1 215741375 missense variant C/T snv 2.0E-05 7.0E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs201238640
rs201238640 		0.925 0.200 1 215674637 missense variant G/A snv 4.4E-05 4.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs201863550
rs201863550 		1.000 0.200 1 215879068 missense variant C/T snv 2.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs35730265
rs35730265 		0.925 0.200 1 216323590 missense variant C/G snv 1.2E-02 1.3E-02
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs35818432
rs35818432 		0.925 0.200 1 216292352 missense variant G/C snv 1.3E-03 7.8E-04
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs373599651
rs373599651 		1.000 0.200 1 216175335 missense variant G/A snv 4.8E-05 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs397518026
rs397518026 		0.882 0.200 1 216365084 missense variant A/C;T snv 4.0E-06; 3.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs41277210
rs41277210 		1.000 0.200 1 215970707 missense variant C/T snv 2.1E-02 2.0E-02
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs41277212
rs41277212 		1.000 0.200 1 215993112 missense variant T/G snv 2.2E-02 2.0E-02
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs41302237
rs41302237 		1.000 0.200 1 215671121 missense variant G/C snv 2.7E-03 1.2E-02
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs45549044
rs45549044 		1.000 0.200 1 215671031 missense variant C/T snv 4.7E-03 4.2E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs56136489
rs56136489 		1.000 0.200 1 215647560 missense variant G/A;T snv 1.1E-03; 1.2E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs730254
rs730254 		1.000 0.200 1 215674202 missense variant C/G;T snv 1.9E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs745371873
rs745371873 		1.000 0.200 1 215675216 missense variant G/C;T snv 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs750651679
rs750651679 		1.000 0.200 1 216324352 missense variant C/A;T snv 8.2E-06; 4.1E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs754560357
rs754560357 		1.000 0.200 1 215675389 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs765306173
rs765306173 		1.000 0.200 1 215743193 missense variant T/C snv 6.0E-05 1.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs768893227
rs768893227 		1.000 0.200 1 215674451 missense variant T/C snv 8.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs79444516
rs79444516 		1.000 0.200 1 215998957 missense variant C/G snv 9.3E-03 4.0E-02
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 20 1998 2013
dbSNP: rs1553268563
rs1553268563 		1 215845823 coding sequence variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015
dbSNP: rs1553268563
rs1553268563 		1 215845823 coding sequence variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903 		0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903 		0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015