Gene: FBN1 ×
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: rs137854461
rs137854461
FBN1
1 0.790 0.280 15 48437026 missense variant T/C snv 0.820 1.000 2 1993 2017
dbSNP: rs137854462
rs137854462
FBN1
1 1.000 0.160 15 48510115 missense variant T/A snv 0.810 1.000 1 1993 2017
dbSNP: rs137854467
rs137854467
FBN1
2 0.790 0.280 15 48600217 missense variant G/A snv 0.810 1.000 1 1993 2017
dbSNP: rs137854468
rs137854468
FBN1
4 0.851 0.160 15 48487396 missense variant C/T snv 0.810 1.000 1 1976 2013
dbSNP: rs137854478
rs137854478
FBN1
2 0.851 0.160 15 48488233 missense variant C/T snv 0.810 1.000 1 1993 2017
dbSNP: rs113393517
rs113393517
FBN1
1 1.000 0.160 15 48481660 missense variant C/A;G snv 0.710 1.000 1 2000 2000
dbSNP: rs113422242
rs113422242
FBN1
1 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.710 1.000 1 2000 2000
dbSNP: rs193922185
rs193922185
FBN1
2 0.752 0.200 15 48505037 missense variant G/A snv 0.710 1.000 1 1973 2017
dbSNP: rs397515812
rs397515812
FBN1
1 0.925 0.160 15 48468427 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.710 1.000 1 2000 2015
dbSNP: rs794728249
rs794728249
FBN1
1 0.925 0.160 15 48437039 missense variant C/T snv 0.710 1.000 1 2010 2010
dbSNP: rs794728334
rs794728334
FBN1
1 0.763 0.200 15 48437069 stop gained C/A;T snv 0.710 1.000 1 2019 2019
dbSNP: rs140598
rs140598
FBN1
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.030 1.000 3 1997 2001
dbSNP: rs61746008
rs61746008
FBN1
3 0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04 0.030 1.000 3 2004 2016
dbSNP: rs137854485
rs137854485
FBN1
2 0.925 0.160 15 48515402 missense variant G/A snv 0.020 1.000 2 2007 2019
dbSNP: rs1057520131
rs1057520131
FBN1
2 0.925 0.240 15 48508633 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1064793118
rs1064793118
FBN1
1 1.000 0.160 15 48437038 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1085307528
rs1085307528
FBN1
1 1.000 0.160 15 48508666 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs137854484
rs137854484
FBN1
1 0.925 0.160 15 48488193 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs747713929
rs747713929
FBN1
1 1.000 0.160 15 48489983 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 1998 1998
dbSNP: rs8033037
rs8033037
FBN1
1 1.000 0.160 15 48505110 missense variant A/G;T snv 0.010 1.000 1 2007 2007