Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs1057519699
PIK3CA
3 179218315 missense variant G/A snv 2
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv 1
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs121913288
PIK3CA
1.000 0.200 3 179234219 missense variant A/G snv 1
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1057519937
PIK3CA
0.776 0.200 3 179234285 missense variant T/C snv 11
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs1057520015
ROCK1
1.000 0.080 18 20955181 missense variant G/A snv 2
rs1553622530
BARD1
2 214781220 stop gained C/T snv 1
rs1555458822
PALB2
16 23614062 frameshift variant T/- delins 1
rs876659036
PALB2
1.000 0.080 16 23622997 stop gained C/A;G snv 8.0E-06; 8.0E-06 3
rs1555460315
PALB2
1.000 0.080 16 23629673 frameshift variant GT/- delins 2
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 5
rs1555461693
PALB2
16 23635903 stop gained C/A snv 1
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs1555444543
HERC2
15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del 1
rs1057519727
HERC2
15 28260829 missense variant A/G snv 1