Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs1555397413
FBN1
0.732 0.280 15 48470705 missense variant T/C snv 13
rs137854480
FBN1
0.742 0.200 15 48537629 missense variant G/A snv 11
rs730880099
FBN1
0.742 0.200 15 48510125 missense variant G/A snv 11
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv 10
rs397515757
FBN1
0.752 0.200 15 48515382 splice region variant C/T snv 10
rs794728195
FBN1
0.752 0.200 15 48495155 missense variant G/A snv 10
rs111401431
FBN1
0.763 0.200 15 48468097 missense variant G/A snv 9
rs111984349
FBN1
0.763 0.200 15 48415759 missense variant C/T snv 9
rs113543334
FBN1
0.763 0.200 15 48432944 missense variant A/G snv 9
rs140583
FBN1
0.763 0.200 15 48495219 stop gained G/A snv 9
rs1555400373
FBN1
0.763 0.200 15 48515393 missense variant A/G snv 9
rs193922204
FBN1
0.763 0.200 15 48468542 splice region variant C/T snv 4.0E-06 7.0E-06 9
rs193922228
FBN1
0.763 0.200 15 48430736 missense variant A/G snv 7.0E-06 9
rs794728334
FBN1
0.763 0.200 15 48437069 stop gained C/A;T snv 9
rs1555397718
FBN1
0.776 0.200 15 48474566 missense variant C/A;T snv 8
rs1566899590
FBN1
0.776 0.200 15 48448894 splice acceptor variant C/T snv 8
rs1566911957
FBN1
0.776 0.200 15 48496204 frameshift variant GTACACATTCA/- delins 8
rs71467648
FBN1
0.776 0.200 15 48437898 stop gained A/C;T snv 8
rs794728208
FBN1
0.776 0.200 15 48485374 missense variant C/T snv 8
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 5
rs397514558
FBN1
0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 4