Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv 13
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 6
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs942158624
TP53
0.724 0.320 17 7674948 missense variant T/A snv 16
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv 15
rs876659802
TP53
0.732 0.440 17 7673787 missense variant G/A;C;T snv 15
rs876660333
TP53
0.742 0.360 17 7673805 missense variant A/C;G;T snv 13
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 7
rs2231137
ABCG2
0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 1
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
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
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/A;C snv 6
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9