Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2237306
GSDME
7 24717583 intron variant C/A;G;T snv 1
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 21
rs29232 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 4
rs7717457 5 40887679 intergenic variant A/G snv 0.23 1
rs1634507
LOC101927369
17 36098180 regulatory region variant G/A;T snv 1
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs755100942
ARL11
0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs74315364
RNASEL
0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 13
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv 10
rs121908568
AXIN2
0.807 0.160 17 65536495 stop gained G/A snv 9
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 8
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 6
rs137854574
APC
0.925 0.120 5 112828919 stop gained C/T snv 4
rs2020959
ERCC4
0.882 0.200 16 13947765 stop gained C/A;T snv 3.2E-05; 2.4E-05 4
rs587776946
LRIG2
1.000 1 113114471 stop gained C/T snv 2
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249