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: rs1057518809
rs1057518809
FBN1
4 0.925 0.160 15 48425795 missense variant T/C snv 0.700 0
dbSNP: rs1057518973
rs1057518973
FBN1
3 0.925 0.120 15 48596343 missense variant A/C;G snv 0.700 0
dbSNP: rs121908029
rs121908029
LDLR
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
dbSNP: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs137854467
rs137854467
FBN1
7 0.790 0.280 15 48600217 missense variant G/A snv 0.700 0
dbSNP: rs1553507345
rs1553507345
COL3A1
1 1.000 0.040 2 188989397 missense variant GC/AA mnv 0.700 0
dbSNP: rs727503057
rs727503057
FBN1
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs10263935
rs10263935
KCTD7
1 1.000 0.040 7 66631041 intron variant G/A snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1036477
rs1036477
FBN1
5 0.882 0.040 15 48622729 intron variant A/G snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs2118181
rs2118181
FBN1
6 0.851 0.040 15 48623687 intron variant T/C snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2274756
rs2274756
MMP9 ; SLC12A5-AS1
4 0.851 0.200 20 46014472 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2359612
rs2359612
VKORC1
7 0.851 0.120 16 31092475 intron variant A/G snv 0.66 0.010 1.000 1 2007 2007
dbSNP: rs4774517
rs4774517
FBN1
3 0.882 0.040 15 48467094 intron variant G/T snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs6045676
rs6045676
PDYN-AS1
1 1.000 0.040 20 1960525 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs730880099
rs730880099
FBN1
11 0.742 0.200 15 48510125 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs755251
rs755251
FBN1
2 0.925 0.040 15 48519823 intron variant A/G;T snv 0.010 1.000 1 2015 2015