Gene: FBN1 ×
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: 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
2 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
dbSNP: rs137854485
rs137854485
FBN1
2 0.925 0.160 15 48515402 missense variant G/A snv 0.020 1.000 2 2007 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: rs137854475
rs137854475
FBN1
3 0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03 0.700 1.000 30 1993 2017
dbSNP: rs137854456
rs137854456
FBN1
2 0.925 0.160 15 48487365 missense variant C/A;G;T snv 4.0E-06; 4.0E-05 0.700 1.000 20 1993 2013
dbSNP: rs137854465
rs137854465
FBN1
2 0.925 0.160 15 48488230 missense variant A/G snv 0.700 1.000 20 1993 2013
dbSNP: rs137854472
rs137854472
FBN1
2 0.925 0.160 15 48488448 missense variant T/C snv 8.0E-06 0.700 1.000 20 1993 2013
dbSNP: rs137854477
rs137854477
FBN1
2 0.925 0.160 15 48489979 missense variant C/T snv 0.700 1.000 20 1993 2013
dbSNP: rs727503057
rs727503057
FBN1
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 1.000 16 1973 2015
dbSNP: rs727503054
rs727503054
FBN1
15 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 1.000 14 1999 2016
dbSNP: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 1.000 13 1995 2014
dbSNP: rs1555395663
rs1555395663
FBN1
2 0.925 0.160 15 48444648 missense variant C/T snv 0.700 1.000 11 1973 2008
dbSNP: rs1555399968
rs1555399968
FBN1
2 0.925 0.160 15 48508660 missense variant A/C snv 0.700 1.000 10 1973 2015
dbSNP: rs1566935517
rs1566935517
FBN1
2 0.925 0.160 15 48600195 missense variant C/T snv 0.700 1.000 10 1973 2012
dbSNP: rs193922228
rs193922228
FBN1
9 0.763 0.200 15 48430736 missense variant A/G snv 7.0E-06 0.700 1.000 10 1999 2016
dbSNP: rs397515786
rs397515786
FBN1
2 0.925 0.160 15 48488412 missense variant C/T snv 0.700 1.000 10 1973 2007
dbSNP: rs1064794282
rs1064794282
FBN1
2 0.925 0.160 15 48497316 missense variant C/T snv 0.700 1.000 9 2002 2018
dbSNP: rs111231312
rs111231312
FBN1
2 0.925 0.160 15 48468070 stop gained G/A snv 0.700 1.000 9 2001 2015
dbSNP: rs147195031
rs147195031
FBN1
3 0.882 0.160 15 48420780 missense variant G/A snv 0.700 1.000 9 1973 2016