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
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
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs965513
PTCSC2
0.742 0.200 9 97793827 intron variant A/G;T snv 15
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 11
rs966423
DIRC3
0.776 0.200 2 217445617 intron variant C/G;T snv 11
rs10877012
CYP27B1 ; METTL1
0.763 0.280 12 57768302 intron variant G/C;T snv 10
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv 10
rs2227869
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 9
rs927650
CYP24A1
0.763 0.240 20 54156202 intron variant T/A;C snv 9
rs4946936
FOXO3
0.790 0.160 6 108682118 3 prime UTR variant T/A;C snv 8
rs12885300
DIO2 ; DIO2-AS1
0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 7
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv 6
rs732609
TPO
0.827 0.160 2 1496155 missense variant A/C;G snv 0.43 5
rs13184587
ARSB
0.925 5 78910960 intron variant G/A;T snv 2