TPRN, taperin, 286262

N. diseases: 7; 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: rs1187168418
rs1187168418
1.000 0.120 9 137199553 stop gained C/A;G snv
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1187168418
rs1187168418
1.000 0.120 9 137199553 stop gained C/A;G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564386891
rs1564386891
1.000 0.120 9 137200659 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564386891
rs1564386891
1.000 0.120 9 137200659 stop gained C/T snv
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs267607135
rs267607135
1.000 0.120 9 137199473 stop gained C/T snv 7.0E-06
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906219
rs387906219
1.000 0.120 9 137199285 frameshift variant G/- delins
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906220
rs387906220
1.000 0.120 9 137200474 frameshift variant -/AGCCGCGCCCC delins
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906221
rs387906221
1.000 0.120 9 137200477 frameshift variant CCCGCCGCGCC/-;CCCGCCGCGCCCCCGCCGCGCC delins 1.8E-04
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906222
rs387906222
1.000 0.120 9 137199182 frameshift variant C/- delins
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0