Variant: rs397515330 

    present in Gene: PRKG1
    present in Chromosome: 10
    Position on Chromosome: 51467819
    Alleles of this Variant: G/A

rs397515330 in PRKG1 gene and AORTIC ANEURYSM, FAMILIAL THORACIC 8 PMID 23910461 2013 Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

PMID 27442293 2016 PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.