Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559261557
COL6A3
1.000 0.120 2 237381113 stop gained G/A snv 1
rs200478135
COL6A3
1.000 0.120 2 237363363 missense variant C/T snv 4.8E-05 3.5E-05 1
rs35227432
COL6A3
1.000 0.120 2 237379103 missense variant C/A;T snv 8.0E-06; 1.5E-03 1
rs397515332
COL6A3
1.000 0.120 2 237361138 missense variant C/G;T snv 1
rs761796175
COL6A3
1.000 0.120 2 237377336 stop gained G/A snv 4.2E-06 1
rs763187844
COL6A3
1.000 0.120 2 237396742 stop gained G/A snv 4.0E-06 1.4E-05 1
rs763348222
COL6A3
1.000 0.120 2 237348645 missense variant C/T snv 6.4E-05 1
rs766488017
COL6A3
1.000 0.120 2 237371896 missense variant T/A snv 1.0E-04 4.2E-05 1
rs777304794
COL6A3
1.000 0.120 2 237366707 frameshift variant C/- delins 4.0E-06 7.0E-06 1
rs794727188
COL6A3
1.000 0.120 2 237360131 missense variant C/T snv 1
rs886043737
COL6A3
1.000 0.120 2 237360158 missense variant C/T snv 1
rs886044252
COL6A3
1.000 0.120 2 237360150 missense variant C/T snv 1
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
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
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
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