MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965081
rs121965081
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
dbSNP: rs121965082
rs121965082
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
dbSNP: rs397516321
rs397516321
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		T 0.800 GeneticVariation CLINVAR Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. 28472130 2017
dbSNP: rs111033181
rs111033181
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
dbSNP: rs111033214
rs111033214
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs111033214
rs111033214
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 CausalMutation CLINVAR Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. 26791358 2016
dbSNP: rs1472566324
rs1472566324
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
dbSNP: rs1472566324
rs1472566324
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663 2016
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663 2016
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs397516321
rs397516321
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		T 0.800 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs782252317
rs782252317
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs111033178
rs111033178
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs111033181
rs111033181
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs111033206
rs111033206
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs111033214
rs111033214
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs111033215
rs111033215
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs111033283
rs111033283
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs1555067667
rs1555067667
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs199606180
rs199606180
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.800 GeneticVariation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563 2015
dbSNP: rs28934610
rs28934610
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs368657015
rs368657015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs397516321
rs397516321
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.800 GeneticVariation UNIPROT Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
dbSNP: rs782166819
rs782166819
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease:
Usher Syndrome, Type I 		T 0.800 GeneticVariation CLINVAR Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. 26309859 2015