Variant: rs1562848479 

    present in Gene: LOC102723334;CCM2
    present in Chromosome: 7
    Position on Chromosome: 45000364
    Alleles of this Variant: G/A

rs1562848479 in LOC102723334;CCM2 gene and CEREBRAL CAVERNOUS MALFORMATIONS 2 PMID 18300272 2008 Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

PMID 15122722 2004 CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

PMID 17160895 2007 Deletions in CCM2 are a common cause of cerebral cavernous malformations.

PMID 2468908 1988 Verapamil alters the relationship between renal perfusion pressure and glomerular filtration rate and renin release: the mechanism of the antihypertensive effect.

PMID 14624391 2003 Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.