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: rs137854462
rs137854462
FBN1
1 1.000 0.160 15 48510115 missense variant T/A snv 0.810 1.000 31 1993 2017