Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 GeneticVariation UNIPROT Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. 25388789

2014
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 GeneticVariation UNIPROT Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 22938506

2012
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 GeneticVariation UNIPROT In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. 19477959

2009
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 GeneticVariation UNIPROT Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. 18804074

2008
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 GeneticVariation UNIPROT A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. 16773128

2006
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 GeneticVariation UNIPROT Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 13680526

2003
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.800 GeneticVariation UNIPROT A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). 14684684

2003
dbSNP: rs104894547
rs104894547
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		G 0.800 CausalMutation CLINVAR