Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853236
rs878853236
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
dbSNP: rs878853236
rs878853236
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 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
dbSNP: rs878853236
rs878853236
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
dbSNP: rs878853236
rs878853236
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 GeneticVariation CLINVAR Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 24105371

2014
dbSNP: rs878853236
rs878853236
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		T 0.700 CausalMutation CLINVAR