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: 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: 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: rs397515359
rs397515359 		0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs397515359
rs397515359 		0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04
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: rs397515359
rs397515359 		0.827 0.200 11 17531408 frameshift variant -/G delins 1.8E-04
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: rs1554960388
rs1554960388 		0.925 0.200 11 17520933 frameshift variant -/T 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 2016 2016
dbSNP: rs1554960388
rs1554960388 		0.925 0.200 11 17520933 frameshift variant -/T 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 2016 2016
dbSNP: rs758555088
rs758555088 		0.925 0.200 11 17501104 frameshift variant -/T delins 4.0E-06; 8.0E-06 1.4E-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: rs758555088
rs758555088 		0.925 0.200 11 17501104 frameshift variant -/T delins 4.0E-06; 8.0E-06 1.4E-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: 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: rs2237959
rs2237959 		1.000 0.040 11 17535470 intron variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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
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: rs1207247951
rs1207247951 		0.882 0.200 11 17517465 frameshift variant C/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554961872
rs1554961872 		0.925 0.200 11 17526346 splice donor 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 0
dbSNP: rs1554961872
rs1554961872 		0.925 0.200 11 17526346 splice donor 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 0
dbSNP: rs1187887456
rs1187887456 		0.925 0.200 11 17523479 splice acceptor variant C/A snv 3.5E-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: rs1187887456
rs1187887456 		0.925 0.200 11 17523479 splice acceptor variant C/A snv 3.5E-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: 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