Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779670
COL3A1
1.000 0.160 2 188992877 intron variant A/C;G snv 4.0E-06 1
rs587779701
MIR3606 ; COL3A1
1.000 0.160 2 188995036 intron variant T/G snv 1
rs863224860
COL3A1
0.925 0.160 2 189010732 stop gained C/T snv 2
rs1057521106
COL3A1
1.000 0.160 2 188991016 stop gained C/A;T snv 4.0E-06 1
rs1060500187
COL3A1
1.000 0.160 2 189010187 stop gained G/A snv 1
rs112371422
COL3A1
1.000 0.160 2 189007569 stop gained C/G;T snv 8.0E-05 1
rs1553510000
COL3A1
1.000 0.160 2 189011640 stop gained G/T snv 1
rs1559052609
LOC105373791 ; COL3A1
1.000 0.160 2 188984814 stop gained G/A snv 1
rs1559060412
COL3A1
1.000 0.160 2 189003426 stop gained C/T snv 1
rs375737772
COL3A1
1.000 0.160 2 188996419 stop gained C/T snv 1
rs587779467
COL3A1
1.000 0.160 2 189010201 stop gained C/G;T snv 8.0E-06 1
rs587779479
COL3A1
1.000 0.160 2 189006236 stop gained C/T snv 1
rs587779488
COL3A1
1.000 0.160 2 189005353 stop gained G/T snv 1
rs587779527
COL3A1
1.000 0.160 2 188997189 stop gained C/T snv 1
rs587779585
COL3A1
1.000 0.160 2 189011667 stop gained C/T snv 1
rs587779607
COL3A1
1.000 0.160 2 188992208 stop gained C/T snv 1
rs587779646
COL3A1
1.000 0.160 2 189008113 stop gained C/T snv 1
rs587779677
LOC105373791 ; COL3A1
1.000 0.160 2 188974519 stop gained G/A snv 1
rs794728060
COL3A1
1.000 0.160 2 189010723 stop gained C/T snv 1
rs121912923
COL3A1
0.882 0.160 2 188996479 missense variant G/A;C;T snv 3
rs587779595
COL3A1
0.925 0.200 2 189005351 missense variant G/A snv 3
rs794728199
FBN1
0.882 0.200 15 48489980 missense variant C/A;T snv 3
rs121912920
COL3A1
0.925 0.160 2 189002316 missense variant G/A snv 2
rs1559056438
MIR3606 ; COL3A1
0.925 0.200 2 188994727 missense variant G/A snv 2
rs587779692
MIR3606 ; COL3A1
0.925 0.240 2 188994297 missense variant G/A snv 2