Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs3802842
COLCA2 ; COLCA1
0.695 0.280 11 111300984 intron variant C/A snv 0.71 17
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 15
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs16892766 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 10
rs12947788
TP53
0.776 0.280 17 7674109 intron variant G/A snv 0.10 8
rs2075786
TERT
0.790 0.360 5 1266195 intron variant A/G snv 0.55 8
rs35502531
MLH1
0.827 0.160 3 37047639 missense variant AA/GC mnv 7
rs961253 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 7
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv 6
rs587778617
PMS2
0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 5
rs1172901314
MRC1
0.851 0.160 10 17833714 missense variant C/T snv 7.0E-06 4
rs143969848 0.925 0.160 3 36958902 TF binding site variant G/A snv 9.8E-03 4
rs587778937
MLH1
0.882 0.160 3 37040291 missense variant T/C;G snv 4
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 4
rs63750575
MLH1
0.851 0.160 3 37047550 missense variant T/C snv 4
rs63751147
MSH2
0.925 0.160 2 47416375 missense variant T/C;G snv 4
rs63751202
MLH1
0.851 0.160 3 37048578 missense variant T/C;G snv 4
rs267607713
MLH1
0.882 0.160 3 36996623 splice acceptor variant G/C snv 3
rs376642306
MLH1
0.925 0.160 3 37028819 missense variant T/C snv 3
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins 3