Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs121912665
TP53
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 7
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs80359030
BRCA2
0.851 13 32363189 stop gained G/A;T snv 4.0E-06 6
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 5
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 27
rs121913238
KRAS
0.732 0.240 12 25227343 missense variant G/C;T snv 17
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1057519861
EGFR ; EGFR-AS1
0.776 0.080 7 55181398 missense variant T/A snv 15
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4