Source: ALL
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 214
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 25
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23
rs16892766 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 18
rs961253 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 15
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 10
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
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 8
rs587778617
PMS2
0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 8
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv 8
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 7
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs267607720
MLH1
0.851 0.240 3 37000952 splice region variant C/G;T snv 6