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: rs730880099
rs730880099
FBN1
11 0.742 0.200 15 48510125 missense variant G/A snv 0.700 1.000 8 1973 2010