PCDH15, protocadherin related 15, 65217

N. diseases: 36; N. variants: 118
Disease: Deafness, Autosomal Recessive 23 ×
Source: CURATED ×
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: rs1564949059
rs1564949059 		1.000 0.120 10 54317359 missense variant G/T snv
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0