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: rs25404
rs25404
FBN1
2 0.925 0.160 15 48613009 splice donor variant C/A;T snv 0.700 1.000 8 1993 2013