Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875332
rs281875332
ACTB
A 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
dbSNP: rs281875332
rs281875332
ACTB
0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012
dbSNP: rs281875332
rs281875332
ACTB
C 0.800 CausalMutation CLINVAR