FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Aortic Aneurysm, Abdominal ×
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: rs595244
rs595244 		0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137854485
rs137854485 		0.925 0.160 15 48515402 missense variant G/A snv
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2019 2019