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: rs111033334
rs111033334 		0.790 0.200 1 216247185 stop gained 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 0.010 1.000 1 2008 2008
dbSNP: rs111033334
rs111033334 		0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs201527662
rs201527662 		0.827 0.200 1 216246592 missense variant A/C snv 2.1E-04 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 0.010 1.000 1 2018 2018
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2004 2004
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2015 2018
dbSNP: rs80338902
rs80338902 		0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.030 1.000 3 2004 2018
dbSNP: rs111033439
rs111033439 		1.000 0.200 1 215782738 missense variant C/A;T snv 4.0E-06; 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 21 1998 2013
dbSNP: rs1393503590
rs1393503590 		1.000 0.200 1 216323474 missense variant C/G 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 21 1998 2013
dbSNP: rs1423536179
rs1423536179 		1.000 0.200 1 216323634 missense variant G/A;T snv 4.0E-06; 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 21 1998 2013
dbSNP: rs1553250805
rs1553250805 		1.000 0.200 1 216325528 missense variant C/A snv
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 21 1998 2013
dbSNP: rs1553252475
rs1553252475 		1.000 0.200 1 215675105 missense variant G/C snv
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 21 1998 2013
dbSNP: rs199851839
rs199851839 		1.000 0.200 1 215648726 missense variant A/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 21 1998 2013
dbSNP: rs41302239
rs41302239 		1.000 0.200 1 216070292 missense variant G/C snv 8.4E-04 8.1E-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 21 1998 2013
dbSNP: rs547581739
rs547581739 		1.000 0.200 1 216207413 missense variant G/A snv 4.0E-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 21 1998 2013
dbSNP: rs750687826
rs750687826 		1.000 0.200 1 215888437 missense variant C/T 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 21 1998 2013
dbSNP: rs758303489
rs758303489 		1.000 0.200 1 216325447 missense variant C/T snv 2.0E-05 2.1E-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 21 1998 2013
dbSNP: rs111033262
rs111033262 		1.000 0.200 1 215878965 missense variant A/G snv 8.3E-04 3.0E-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: rs111033275
rs111033275 		0.925 0.200 1 215675568 missense variant G/A snv 3.1E-04 5.4E-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: rs111033381
rs111033381 		1.000 0.200 1 215674614 missense variant C/A snv 1.9E-02 1.9E-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: rs111033450
rs111033450 		1.000 0.200 1 216000541 missense variant T/C snv 5.9E-04 7.5E-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: rs113447586
rs113447586 		1.000 0.200 1 215650602 missense variant G/T snv 2.1E-03 8.1E-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: rs1308924086
rs1308924086 		1.000 0.200 1 215782886 missense variant C/A snv 2.1E-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: rs142381713
rs142381713 		1.000 0.200 1 215728169 missense variant G/A snv 5.9E-04 4.8E-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: rs1424639717
rs1424639717 		1.000 0.200 1 215879090 missense variant C/G snv 8.1E-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