Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv 10
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv 7
rs137854468
FBN1
0.851 0.160 15 48487396 missense variant C/T snv 6
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs140598
FBN1
0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 5
rs137854478
FBN1
0.851 0.160 15 48488233 missense variant C/T snv 4
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv 4
rs794728319
FBN1
0.851 0.160 15 48427731 frameshift variant AT/- del 4
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv 4
rs137854481
FBN1
0.882 0.160 15 48488481 missense variant C/T snv 3
rs147195031
FBN1
0.882 0.160 15 48420780 missense variant G/A snv 3
rs1555395209
FBN1
0.882 0.160 15 48437054 frameshift variant -/G delins 3
rs1555395742
FBN1
0.882 0.160 15 48445370 splice region variant A/G snv 3
rs1555396638
FBN1
0.882 0.160 15 48460305 frameshift variant -/TA delins 3
rs193922198
FBN1
0.882 0.160 15 48488383 frameshift variant C/- del 3
rs267606800
FBN1
0.882 0.160 15 48467994 missense variant C/G;T snv 3
rs397515808
FBN1
0.882 0.160 15 48470687 missense variant C/A;G;T snv 1.6E-05 3
rs398122833
FBN1
0.882 0.160 15 48412568 splice donor variant C/A;T snv 3
rs61746008
FBN1
0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04 3
rs794728165
FBN1
0.882 0.160 15 48520716 stop gained G/A snv 3
rs794728190
FBN1
0.882 0.160 15 48496213 missense variant C/A;T snv 3
rs1052480459
FBN1
0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06 2
rs1057521102
FBN1
0.925 0.160 15 48510088 missense variant C/A;T snv 2
rs1057523406
FBN1
0.925 0.160 15 48494209 missense variant C/A;G;T snv 2
rs1057524458
FBN1
0.925 0.160 15 48489988 missense variant C/G snv 2