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: rs35725509
rs35725509
0.925 0.120 12 82896304 missense variant G/A snv 1.0E-02 6.2E-03
Sensorineural Hearing Loss (disorder)
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs35725509
rs35725509
0.925 0.120 12 82896304 missense variant G/A snv 1.0E-02 6.2E-03
Auditory neuropathy spectrum disorder
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7961953
rs7961953
0.925 0.040 12 82698057 intron variant G/A snv 0.15
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7961953
rs7961953
0.925 0.040 12 82698057 intron variant G/A snv 0.15
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
Eye Diseases 0.010 1.000 1 2017 2017