FBN1, fibrillin 1, 2200

N. diseases: 137; N. variants: 1044
Disease: Aortic Aneurysm ×
Source: CLINVAR ×
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: rs137854466
rs137854466 		0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503054
rs727503054 		0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.700 0