Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199700840
rs199700840
TBC1D24
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		C 0.700 CausalMutation CLINVAR Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994

2014