Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 1
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv 5
rs1057519933
PIK3CA
0.790 0.240 3 179199156 missense variant A/G snv 11
rs1057519934
PIK3CA
0.790 0.240 3 179199158 missense variant G/C snv 11
rs1057519935
PIK3CA
0.790 0.240 3 179199157 missense variant A/G snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 6
rs1057517992
KMT2D
0.925 0.240 12 49031861 stop gained G/A snv 2
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519877
B2M ; PATL2
0.763 0.280 15 44711549 start lost G/A snv 10
rs1057519879
PATL2 ; B2M
0.763 0.280 15 44711548 start lost T/C;G snv 10
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 6
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/A;C snv 6
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv 1
rs942158624
TP53
0.724 0.320 17 7674948 missense variant T/A snv 16
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 6
rs730882018
TP53
0.851 0.320 17 7676153 frameshift variant G/-;GG delins 5
rs121913527
KRAS
0.807 0.320 12 25225628 missense variant C/A;G;T snv 2
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13