Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3747093
YDJC
0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs17728461
LOC105372988 ; HORMAD2
0.776 0.120 22 30202563 intron variant C/G snv 0.25 9
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs2236142
HSCB ; CHEK2
0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66 6
rs738722
CHEK2
0.882 0.120 22 28734024 intron variant T/C snv 0.67 4
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs1047972
AURKA
0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs13042395
SLC52A3
0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 13
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs895819
MIR23A ; LOC284454 ; MIR27A ; MIR24-2
0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3787016
POLR2E
0.677 0.280 19 1090804 intron variant A/G snv 0.78 24
rs2228612
DNMT1
0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 12
rs7248488
ZNF208
0.851 0.160 19 22005907 intron variant A/C snv 0.59 5
rs756826500
ERCC1
0.925 0.080 19 45413705 missense variant G/A snv 4.0E-06 5
rs11473
BSG
0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 4
rs8103163
ZNF208
0.882 0.120 19 21991950 intron variant A/C snv 0.59 4
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 25