MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher Syndrome, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657416
rs876657416
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 24651602 2014
dbSNP: rs876657416
rs876657416
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Usher syndrome. 21697857 2011
dbSNP: rs876657416
rs876657416
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		C 0.800 CausalMutation CLINVAR