MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
Disease: Congenital sensorineural hearing loss ×
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: rs768257384
rs768257384 		1.000 0.120 17 18157059 stop gained C/T snv 1.2E-05
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs780170125
rs780170125 		0.925 0.120 17 18149489 frameshift variant ACAG/- delins 1.3E-04
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0