Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060501033
FBN1
0.925 0.160 15 48411045 frameshift variant A/- del 2
rs1555393516
FBN1
0.925 0.040 15 48411101 frameshift variant -/G delins 2
rs886038795
FBN1
0.925 0.160 15 48411118 stop gained G/A snv 2
rs1555393532
FBN1
0.925 0.160 15 48411159 missense variant T/C;G snv 2
rs1555393551
FBN1
0.925 0.160 15 48411271 stop gained C/A snv 2
rs1566888689
FBN1
0.925 0.160 15 48411277 frameshift variant T/- delins 2
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs193922243
FBN1
0.925 0.160 15 48412564 splice region variant C/A;T snv 2
rs398122833
FBN1
0.882 0.160 15 48412568 splice donor variant C/A;T snv 3
rs1555393652
FBN1
0.925 0.160 15 48412622 stop gained T/A snv 2
rs200309328
FBN1
0.925 0.160 15 48412715 stop gained G/A;C snv 4.0E-06 2
rs1566889188
FBN1
0.925 0.160 15 48412739 missense variant A/G snv 2
rs1555393825
FBN1
0.925 0.160 15 48415545 missense variant A/C snv 2
rs794728283
FBN1
0.925 0.160 15 48415549 missense variant G/A snv 2
rs1555393833
FBN1
0.925 0.160 15 48415573 missense variant A/C snv 2
rs794728281
FBN1
0.925 0.160 15 48415582 missense variant C/A;T snv 2
rs149062442
FBN1
0.925 0.160 15 48415588 stop gained C/A;T snv 2.0E-05 5.6E-05 2
rs1566889870
FBN1
0.925 0.160 15 48415600 missense variant A/G snv 2
rs112196241
FBN1
0.925 0.160 15 48415605 missense variant T/C snv 2
rs1555393844
FBN1
0.925 0.160 15 48415610 stop gained G/T snv 2
rs1555393856
FBN1
0.925 0.040 15 48415631 stop gained A/T snv 2
rs1555393858
FBN1
0.925 0.160 15 48415633 missense variant A/G snv 2
rs1555393866
FBN1
0.925 0.160 15 48415666 stop gained G/A snv 2
rs794728280
FBN1
0.925 0.160 15 48415671 missense variant T/C snv 7.0E-06 2
rs1060501067
FBN1
0.925 0.160 15 48415705 frameshift variant -/C delins 2