Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1946518
IL18
0.602 0.760 11 112164735 intron variant T/G snv 0.60 46
rs11077
POLR1C ; XPO5
0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 14
rs17849071
PIK3CA
0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 8
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv 6
rs4658973
WDR3 ; SPAG17
0.882 0.080 1 117956431 intron variant T/G snv 0.34 3
rs2708896
PKD1L1
0.882 0.080 7 47955186 upstream gene variant T/C;G snv 3
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs11674595
IL1R2
0.763 0.200 2 101994530 intron variant T/C snv 0.22 13
rs861530
LOC112268131 ; XRCC3 ; KLC1
0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 13
rs786203472
CHEK2
0.827 0.120 22 28719414 start lost T/C snv 5
rs863224748
CHEK2
0.827 0.120 22 28734721 start lost T/C snv 5
rs1031583860
GLYAT
0.882 0.080 11 58709815 missense variant T/C snv 3
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 24
rs907580 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 4
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 17
rs763538721
HIF1A-AS3 ; HIF1A
0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06 8
rs6013897 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 7
rs776935407
SGSM3
0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06 6
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs71369530
FOXE1 ; PTCSC2
0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68 4
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62