Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519789
DDR2
1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 1
rs1057519790
DDR2
1.000 0.080 1 162778617 missense variant G/T snv 1
rs144594252
DDR2
0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 1
rs34192549
EPHA2
1.000 0.080 1 16137994 missense variant C/G;T snv 2.5E-02 1
rs376303676
DDR2
1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06 1
rs578015216
DDR2
1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05 1
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
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 12
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 11
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
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