FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Dilatation of aorta ×
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: rs1057518809
rs1057518809 		0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		Cardiovascular Diseases 0.700 0