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: 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: rs1565017125
rs1565017125 		1.000 0.120 11 17496814 splice acceptor variant C/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565017125
rs1565017125 		1.000 0.120 11 17496814 splice acceptor 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: rs778110397
rs778110397 		0.925 0.200 11 17501536 splice acceptor variant C/A;G snv 4.1E-06; 4.1E-06
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 2 2011 2012
dbSNP: rs778110397
rs778110397 		0.925 0.200 11 17501536 splice acceptor variant C/A;G snv 4.1E-06; 4.1E-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 1.000 2 2011 2012
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: 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 1.000 7 2001 2015
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: rs397514500
rs397514500 		0.882 0.200 11 17531233 missense variant C/A;G;T snv 8.0E-06; 4.0E-06
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: rs397514500
rs397514500 		0.882 0.200 11 17531233 missense variant C/A;G;T snv 8.0E-06; 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: rs397514500
rs397514500 		0.882 0.200 11 17531233 missense variant C/A;G;T snv 8.0E-06; 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: rs6486378
rs6486378 		1.000 0.040 11 17526468 intron variant C/A;T snv 2.2E-04; 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs775496999
rs775496999 		0.925 0.200 11 17526346 splice donor variant C/A;T 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: rs775496999
rs775496999 		0.925 0.200 11 17526346 splice donor variant C/A;T 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: rs1283092935
rs1283092935 		0.925 0.200 11 17526752 splice donor variant C/G;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: rs1283092935
rs1283092935 		0.925 0.200 11 17526752 splice donor variant C/G;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: 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: rs1287021691
rs1287021691 		0.925 0.200 11 17533254 splice donor variant C/T 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 1.000 1 2016 2016
dbSNP: rs1287021691
rs1287021691 		0.925 0.200 11 17533254 splice donor variant C/T 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 1.000 1 2016 2016
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: 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