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: rs748718975
rs748718975
1.000 0.120 1 168696611 missense variant G/A snv 2.0E-05 1.4E-05
Progressive sensorineural hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017