FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Aortic Aneurysm, Thoracic ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2042747
rs2042747 		1.000 0.040 15 48436437 intron variant C/T snv 0.66
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011