Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs193922204
FBN1
0.763 0.200 15 48468542 splice region variant C/T snv 4.0E-06 7.0E-06 9
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv 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
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
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
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs71467648
FBN1
0.776 0.200 15 48437898 stop gained A/C;T snv 8
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs794728208
FBN1
0.776 0.200 15 48485374 missense variant C/T snv 8
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv 7
rs137854467
FBN1
0.790 0.280 15 48600217 missense variant G/A snv 7
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv 6
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
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 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
rs1555393889
FBN1
0.851 0.200 15 48415758 missense variant T/A;C snv 4
rs397514558
FBN1
0.851 0.200 15 48490013 missense variant G/A snv 7.0E-06 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