TECTA, tectorin alpha, 7007

N. diseases: 24; N. variants: 28
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: rs1565519673
rs1565519673
1.000 0.120 11 121118355 frameshift variant -/T ins
CUI: C1863655
Disease: Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 21
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565536400
rs1565536400
1.000 0.120 11 121168792 stop gained C/T snv
CUI: C1863655
Disease: Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 21
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1565541888
rs1565541888
1.000 0.120 11 121187999 splice region variant G/A snv
CUI: C1863655
Disease: Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 21
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs368050948
rs368050948
1.000 0.120 11 121130006 stop gained C/A;T snv 3.2E-05 1.4E-04
CUI: C1863655
Disease: Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 21
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs764153521
rs764153521
1.000 0.120 11 121160302 stop gained C/A;T snv 8.0E-06
CUI: C1863655
Disease: Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 21
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs773573968
rs773573968
1.000 0.120 11 121125343 frameshift variant GG/-;G delins 4.0E-06
CUI: C1863655
Disease: Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 21
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0