Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3745601
P2RY11 ; PPAN-P2RY11
0.882 0.120 19 10113872 missense variant G/A snv 0.16 0.13 3
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs71305152
ZFPM2
0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 5
rs751857027
QTRT1
0.925 0.120 19 10707507 missense variant C/G;T snv 1.2E-05; 4.0E-06 2
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 7
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 7
rs766727892
TCF7L2
0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06 3
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2431689
MIR3142HG
0.882 0.040 5 160472115 intron variant G/A snv 0.17 3
rs2378456
LPP
0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 6
rs1040177874
IDH1
0.925 0.040 2 208239914 missense variant G/A snv 4.0E-06 2
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs9288516
XRCC5
0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 6
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 28
rs5050
AGT
0.827 0.200 1 230714140 intron variant T/C;G snv 7
rs12594
RYR2
0.925 0.040 1 237833787 3 prime UTR variant A/G snv 0.28 2
rs16835904
RYR2
0.925 0.040 1 237833954 3 prime UTR variant C/T snv 0.17 2
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 58
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13