Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
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
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 7
rs1057519923
NFE2L2
0.807 0.200 2 177234081 missense variant T/A snv 6
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 12
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