MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Nonsyndromic Deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199606180
rs199606180
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE This finding further supports the premise that the MYO7A gene is responsible for two distinct diseases and gives evidence that the p.P1887L mutation in a homozygous state may be responsible for nonsyndromic hearing loss. 24194196 2014