Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs983011713
rs983011713
A 0.700 CausalMutation CLINVAR RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. 24038909

2013

dbSNP: rs983011713
rs983011713
A 0.700 CausalMutation CLINVAR CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy. 23164092

2012

dbSNP: rs983011713
rs983011713
A 0.700 CausalMutation CLINVAR Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. 18446851

2008