Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 16
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 5
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 3
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs869312777
PTEN
0.925 0.120 10 87933245 missense variant C/G snv 3
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 3
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 1
rs1057519833
EZH2
0.925 0.120 7 148809375 missense variant G/C snv 1
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1