Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1040177874
IDH1
0.925 0.040 2 208239914 missense variant G/A snv 4.0E-06 2
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 6
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv 5
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv 5
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 28
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
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
rs12594
RYR2
0.925 0.040 1 237833787 3 prime UTR variant A/G snv 0.28 2
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 10
rs1476157710
WNT10B
0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05 3
rs16835904
RYR2
0.925 0.040 1 237833954 3 prime UTR variant C/T snv 0.17 2
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs17522122
AKAP6
0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41 5
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 58
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs1870377
KDR
0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 25
rs2071559
KDR
0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 26