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: 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