Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs1057519780
MTOR
1.000 0.120 1 11127800 missense variant C/T snv 1
rs587777900
MTOR
1.000 0.120 1 11114363 missense variant C/T snv 1
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
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
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 4
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