Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052480459
FBN1
0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06 2
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv 6
rs1057518912
FBN1
1.000 0.160 15 48456643 frameshift variant A/- delins 1
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv 7
rs1057519502
FBN1
1.000 0.160 15 48495237 stop gained G/A snv 1
rs1057520131
FBN1
0.925 0.240 15 48508633 missense variant A/C snv 2
rs1057520617
FBN1
1.000 0.160 15 48430770 missense variant A/G snv 1
rs1057520728
FBN1
1.000 0.160 15 48422057 missense variant A/C;G snv 1
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
rs1060501013
FBN1
1.000 0.160 15 48488410 frameshift variant C/- del 1
rs1060501014
FBN1
1.000 0.160 15 48415567 missense variant A/G snv 1
rs1060501016
FBN1
1.000 0.160 15 48428395 stop gained A/T snv 1
rs1060501017
FBN1
0.925 0.160 15 48505136 missense variant A/C;G snv 2
rs1060501019
FBN1
1.000 0.160 15 48534131 missense variant A/C snv 1
rs1060501021
FBN1
0.925 0.160 15 48494210 missense variant A/G snv 2
rs1060501022
FBN1
0.925 0.160 15 48496214 missense variant A/G snv 2
rs1060501023
FBN1
0.925 0.160 15 48430758 stop gained G/A snv 2
rs1060501024
FBN1
1.000 0.160 15 48503820 stop gained C/A snv 1
rs1060501026
FBN1
1.000 0.160 15 48474299 missense variant C/G snv 1
rs1060501027
FBN1
1.000 0.160 15 48503871 frameshift variant -/T ins 1
rs1060501029
FBN1
0.925 0.160 15 48446909 intron variant T/C snv 2
rs1060501031
FBN1
1.000 0.160 15 48463212 frameshift variant G/- del 1
rs1060501033
FBN1
0.925 0.160 15 48411045 frameshift variant A/- del 2