Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv 7
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv 7
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1057519929
PIK3CA
0.776 0.320 3 179199066 missense variant G/A snv 9
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv 6
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
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
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
rs1057519938
PIK3CA
0.776 0.160 3 179203764 missense variant A/C;T snv 10
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs1057519945
POLE
0.776 0.200 12 132673703 missense variant C/A;T snv 4
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv 9
rs1057519948
RAC1
0.851 0.120 7 6387262 missense variant C/T snv 4