Gene: ACTA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
0.010 GeneticVariation BEFREE R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747

2012