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: rs138138689
rs138138689 		0.925 0.200 11 17527222 splice donor variant C/A;G;T snv 2.0E-05; 4.0E-06; 2.0E-05
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 7 2001 2015
dbSNP: rs146451547
rs146451547 		0.925 0.200 11 17504664 stop gained G/A snv 1.5E-04 6.6E-04
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs146451547
rs146451547 		0.925 0.200 11 17504664 stop gained G/A snv 1.5E-04 6.6E-04
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1465352266
rs1465352266 		0.925 0.200 11 17498273 splice acceptor variant T/C;G snv 7.0E-06
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1465352266
rs1465352266 		0.925 0.200 11 17498273 splice acceptor variant T/C;G snv 7.0E-06
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs147956944
rs147956944 		0.925 0.200 11 17521413 splice acceptor variant T/G snv 4.0E-06
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs147956944
rs147956944 		0.925 0.200 11 17521413 splice acceptor variant T/G snv 4.0E-06
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1482487617
rs1482487617 		0.925 0.200 11 17531398 splice donor variant C/T snv 2.1E-05
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1482487617
rs1482487617 		0.925 0.200 11 17531398 splice donor variant C/T snv 2.1E-05
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs150567427
rs150567427 		1.000 0.200 11 17505950 splice acceptor variant C/T snv 4.2E-04 1.8E-03
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs151045328
rs151045328 		0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2000 2007
dbSNP: rs151045328
rs151045328 		0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2000 2005
dbSNP: rs151045328
rs151045328 		0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.720 1.000 2 2002 2017
dbSNP: rs151045328
rs151045328 		0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-05 2.1E-05
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs151045328
rs151045328 		0.851 0.200 11 17531431 synonymous variant C/T snv 3.6E-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 1 2000 2000
dbSNP: rs1554953350
rs1554953350 		0.925 0.200 11 17496757 splice donor variant C/A snv
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554953350
rs1554953350 		0.925 0.200 11 17496757 splice donor variant C/A snv
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554953745
rs1554953745 		0.925 0.200 11 17498160 splice donor variant A/G snv
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554953745
rs1554953745 		0.925 0.200 11 17498160 splice donor variant A/G snv
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554953746
rs1554953746 		0.925 0.200 11 17498161 splice donor variant C/A snv
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554953746
rs1554953746 		0.925 0.200 11 17498161 splice donor variant C/A snv
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554954574
rs1554954574 		0.925 0.200 11 17501151 splice acceptor variant C/T snv
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554954574
rs1554954574 		0.925 0.200 11 17501151 splice acceptor variant C/T snv
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554954681
rs1554954681 		0.925 0.200 11 17501480 splice donor variant A/G snv
CUI: C1848604
Disease: USHER SYNDROME, TYPE IC
USHER SYNDROME, TYPE IC 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554954681
rs1554954681 		0.925 0.200 11 17501480 splice donor variant A/G snv
CUI: C1865870
Disease: Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 18 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0