Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 21150918

2011
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Phenotypes in defined genotypes including siblings with Usher syndrome. 21174530

2011
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 20132242

2010
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211

2008
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 17361009

2007
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 15221449

2004
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549

1999
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784

1997
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 9171833

1997
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 9382091

1997
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 8776602

1996
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236

1996
dbSNP: rs111033178
rs111033178
MYO7A
A 0.700 CausalMutation CLINVAR Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171

1995