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: rs137854480
rs137854480
FBN1
11 0.742 0.200 15 48537629 missense variant G/A snv 0.800 1.000 37 1993 2019