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rs794728318

From SNPedia

ClinVar
Risk rs794728318(ACCG;ACCG)
Alt rs794728318(ACCG;ACCG)
Reference rs794728318(;)
Significance Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48725077_48725080dupCGGT
CLNSRC
CLNACC RCV000181673.1,