Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs267606985
PTHLH
1.000 12 27963693 missense variant A/G snv 3
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 5
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 35
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 27
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs532480170
C11orf65 ; ATM
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 5
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs80359030
BRCA2
0.851 13 32363189 stop gained G/A;T snv 4.0E-06 6
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins 7
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs934945
PER2
0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 10