Gene: FBN1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520131
rs1057520131
FBN1
2 0.925 0.240 15 48508633 missense variant A/C snv 0.010 1.000 1 2015 2015