Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562846694
rs1562846694
G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019

dbSNP: rs1060499738
rs1060499738
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692228
rs1131692228
T 0.700 CausalMutation CLINVAR