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: 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: 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: rs397515359
rs397515359 		0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-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 1.000 7 2000 2011
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: rs377145777
rs377145777 		0.925 0.200 11 17527256 stop gained G/A snv 8.0E-06 7.1E-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 4 2007 2015
dbSNP: rs377145777
rs377145777 		0.925 0.200 11 17527256 stop gained G/A snv 8.0E-06 7.1E-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 4 2007 2015
dbSNP: rs121908370
rs121908370 		0.882 0.200 11 17533268 stop gained G/A;C snv 1.2E-05; 4.0E-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 3 2001 2015
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: rs1298596518
rs1298596518 		0.925 0.200 11 17526345 splice donor variant A/C 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 1.000 2 2002 2015
dbSNP: rs1298596518
rs1298596518 		0.925 0.200 11 17526345 splice donor variant A/C snv
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 2002 2015
dbSNP: rs397515359
rs397515359 		0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-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 2 2000 2001
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: rs1207247951
rs1207247951 		0.882 0.200 11 17517465 frameshift variant C/- delins
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 2012 2012
dbSNP: rs1207247951
rs1207247951 		0.882 0.200 11 17517465 frameshift variant C/- delins
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 2012 2012
dbSNP: rs1223763703
rs1223763703 		0.925 0.200 11 17526349 stop gained G/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 2010 2010
dbSNP: rs1223763703
rs1223763703 		0.925 0.200 11 17526349 stop gained G/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 2010 2010
dbSNP: rs12275068
rs12275068 		1.000 0.040 11 17525309 intron variant G/A snv 0.10
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 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: rs1355262412
rs1355262412 		0.882 0.200 11 17524446 splice donor variant CCTCCAATCCCACCTCA/- delins 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 2017 2017
dbSNP: rs1355262412
rs1355262412 		0.882 0.200 11 17524446 splice donor variant CCTCCAATCCCACCTCA/- delins 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 2017 2017
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: 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