MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
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: rs1391331735
rs1391331735
0.925 0.120 17 18126795 missense variant C/T snv 7.0E-06
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015