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
rs587777894
MTOR
0.776 0.240 1 11124516 missense variant G/A;T snv 9
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv 4
rs786205165
MTOR
0.882 0.120 1 11157173 missense variant C/A;T snv 4
rs1057519913
MTOR
0.925 0.120 1 11157172 missense variant G/C snv 3
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 2
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
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1558650888
DNMT3A
0.925 0.040 2 25234308 missense variant G/A snv 2
rs1558518449
MSH2
1.000 0.040 2 47475221 frameshift variant ATGACGTA/- delins 1
rs63750949
FBXO11 ; MSH6
0.827 0.080 2 47806213 missense variant C/A;T snv 1
rs863225401
MSH6 ; FBXO11
0.925 0.040 2 47799866 stop gained G/A snv 1
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