Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 21
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 17
rs1042821
MSH6
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs536562413
FBXO11 ; MSH6
0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06 15
rs13428812
DNMT3A
0.827 0.120 2 25269598 intron variant A/G snv 0.31 9
rs6733868
DNMT3A
0.851 0.120 2 25276998 intron variant C/G snv 0.50 6
rs8042919
TRPM7
0.851 0.160 15 50586433 missense variant G/A;T snv 8.5E-02 5