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
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 28
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 23
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs995922697
GPX1
0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 15
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 13