ACTG2, actin gamma 2, smooth muscle, 72

N. diseases: 205; N. variants: 17
Disease: Decreased peristalsis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516046
rs1057516046
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
CUI: C0232475
Disease:
Decreased peristalsis 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016