Variant: rs137853217

present in Gene: CCNH;RASA1 present in Chromosome: 5 Position on Chromosome: 87369821 Alleles of this Variant: G/A

rs137853217 in CCNH;RASA1 gene and CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 PMID 24038909 2013 RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

PMID 14639529 2003 Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.