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rs794728317

From SNPedia

ClinVar
Risk rs794728317(GT;GT)
Alt rs794728317(GT;GT)
Reference rs794728317(;)
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.48729247_48729248dupAC
CLNSRC
CLNACC RCV000181672.1,