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: rs137854478
rs137854478
FBN1
4 0.851 0.160 15 48488233 missense variant C/T snv 0.710 1.000 1 2017 2017
dbSNP: rs137854465
rs137854465
FBN1
2 0.925 0.160 15 48488230 missense variant A/G snv 0.700 0
dbSNP: rs137854472
rs137854472
FBN1
2 0.925 0.160 15 48488448 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs137854473
rs137854473
FBN1
1 1.000 0.160 15 48487384 missense variant T/A snv 0.700 0
dbSNP: rs137854481
rs137854481
FBN1
3 0.882 0.160 15 48488481 missense variant C/T snv 0.700 0
dbSNP: rs137854484
rs137854484
FBN1
2 0.925 0.160 15 48488193 missense variant C/T snv 0.700 0
dbSNP: rs387906547
rs387906547
FBN1
1 1.000 0.160 15 48474652 splice acceptor variant T/A snv 0.700 0
dbSNP: rs387906548
rs387906548
FBN1
2 0.925 0.160 15 48474527 splice donor variant C/T snv 0.700 0