OTOA, otoancorin, 146183

N. diseases: 12; N. variants: 7
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: rs1567396832
rs1567396832 		1.000 0.120 16 21730931 splice donor variant G/T snv
CUI: C1846896
Disease: Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1060499804
rs1060499804 		1.000 0.120 16 21705213 missense variant A/T snv
CUI: C1846896
Disease: Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567381218
rs1567381218 		1.000 0.120 16 21710105 splice donor variant T/C snv
CUI: C1846896
Disease: Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs200656442
rs200656442 		1.000 0.120 16 21715016 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1846896
Disease: Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587777133
rs587777133 		1.000 0.120 16 21722977 missense variant C/T snv 3.6E-05
CUI: C1846896
Disease: Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs751447996
rs751447996 		1.000 0.120 16 21697862 frameshift variant T/- delins 8.8E-05 7.7E-05
CUI: C1846896
Disease: Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs774366025
rs774366025 		1.000 0.120 16 21730923 frameshift variant C/- delins 7.7E-05
CUI: C1846896
Disease: Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 22 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0