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
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
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
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 4
rs113994088
ALK
0.925 0.080 2 29222584 missense variant C/G snv 3
rs113994089
ALK
0.925 0.120 2 29220776 missense variant C/G;T snv 3
rs11568821
LOC105373977 ; PDCD1
0.827 0.200 2 241851760 intron variant C/G;T 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
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14