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: rs397515757
rs397515757
FBN1
10 0.752 0.200 15 48515382 splice region variant C/T snv 0.700 0
dbSNP: rs1555400373
rs1555400373
FBN1
9 0.763 0.200 15 48515393 missense variant A/G snv 0.700 0
dbSNP: rs137854480
rs137854480
FBN1
11 0.742 0.200 15 48537629 missense variant G/A snv 0.700 0