CDH23-AS1, CDH23 antisense RNA 1, 102723377

N. diseases: 5; N. variants: 4
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: rs397517328
rs397517328 		1.000 0.080 10 71511216 splice region variant G/A snv 1.5E-03 3.1E-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: rs796051861
rs796051861 		0.882 0.200 10 71510125 frameshift variant C/- delins
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 1 2005 2005
dbSNP: rs751192273
rs751192273 		1.000 0.120 10 71511154 missense variant A/G snv 4.0E-06
CUI: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs796051861
rs796051861 		0.882 0.200 10 71510125 frameshift variant C/- delins
CUI: C3276419
Disease: USHER SYNDROME, TYPE ID/F, DIGENIC
USHER SYNDROME, TYPE ID/F, DIGENIC 		0.700 0
dbSNP: rs796051861
rs796051861 		0.882 0.200 10 71510125 frameshift variant C/- delins
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs876657754
rs876657754 		1.000 0.200 10 71511163 missense variant A/G snv
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 0