Source: BEFREE ×
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: rs137854475
rs137854475
FBN1
1 0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03 0.010 1.000 1 1994 1994