Gene: ACTB ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894003
rs104894003
ACTB
A 0.800 CausalMutation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646

2006
dbSNP: rs104894003
rs104894003
ACTB
0.800 GeneticVariation UNIPROT A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646

2006
dbSNP: rs104894003
rs104894003
ACTB
A 0.800 CausalMutation CLINVAR Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 12325076

2002
dbSNP: rs1166509821
rs1166509821
ACTB
C 0.700 GeneticVariation CLINVAR