Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs2066845 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 46
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1799883 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 36
rs763351020 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 35