Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs747900252
COL6A2
0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 6
rs398123640
COL6A1
1.000 0.120 21 45989093 missense variant G/A;C snv 4
rs121912938
COL6A1
0.882 0.160 21 45989129 missense variant G/A snv 3
rs121912939
COL6A1
0.882 0.160 21 45989617 missense variant G/A;C;T snv 3
rs267606748
COL6A2
0.882 0.160 21 46115917 missense variant G/A snv 3
rs398124119
COL6A3
0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05 3
rs398124126
COL6A3
0.882 0.160 2 237361120 splice donor variant C/T snv 3
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 3
rs764193290
COL6A3
0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06 3
rs797044988
COL6A3
0.882 0.160 2 237359390 splice acceptor variant T/G snv 3
rs398123631
COL6A1
0.925 0.120 21 45990827 splice donor variant G/A snv 2
rs398123643
COL6A1
1.000 0.120 21 45989626 missense variant G/A snv 2
rs267606747
COL6A2
0.925 0.160 21 46126144 missense variant T/C snv 4.0E-06 2
rs387906609
COL6A2
0.925 0.120 21 46117916 stop gained C/T snv 4.0E-06 2
rs751987553
COL6A2
0.925 0.120 21 46125301 stop gained C/A;T snv 2.8E-05 2
rs761310536
COL6A2
1.000 0.120 21 46121115 missense variant G/A snv 1.2E-05 7.0E-06 2
rs767517186
COL6A3
0.925 0.120 2 237334890 splice acceptor variant C/G snv 1.6E-05 4.2E-05 2
rs878854379
COL6A3
0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06 2
rs886042883
COL6A3
1.000 0.120 2 237359205 splice donor variant C/A;T snv 2
rs886043919
COL6A3
0.925 0.160 2 237359361 splice donor variant C/A;T snv 2
rs1064793840
COL6A1
1.000 0.120 21 45989094 missense variant G/A snv 1
rs112814811
COL6A1
1.000 0.120 21 45998397 splice acceptor variant G/A;C snv 1
rs11553519
COL6A1
1.000 0.120 21 45984388 missense variant G/A;C snv 4.2E-02; 2.4E-05 1