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: rs1057518883
rs1057518883
FBN1
7 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
dbSNP: rs61746008
rs61746008
FBN1
3 0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04 0.010 1.000 1 2009 2009