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: rs137854468
rs137854468
FBN1
6 0.851 0.160 15 48487396 missense variant C/T snv 0.010 1.000 1 1995 1995