Variant: rs1554050230 

    present in Gene: CCNH;RASA1
    present in Chromosome: 5
    Position on Chromosome: 87383729
    Alleles of this Variant: C/T

rs1554050230 in CCNH;RASA1 gene and CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) PMID 24038909 2013 RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

PMID 26499346 2016 A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.