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
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
rs267598140
DDR2
0.925 0.080 1 162778600 missense variant T/A;G snv 1
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs113994088
ALK
0.925 0.080 2 29222584 missense variant C/G snv 3
rs113994091
ALK
0.882 0.160 2 29222407 missense variant G/A;C snv 3.2E-05 2
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 2
rs863225283
ALK
0.925 0.080 2 29213993 missense variant A/C snv 2
rs1057519698
ALK
0.827 0.120 2 29222347 missense variant A/G;T snv 1
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 1
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv 1
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv 1
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 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
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs397517200
PIK3CA
1.000 0.080 3 179210293 inframe deletion AGATTTGCTGAACCC/- del 1
rs397517202
PIK3CA
0.851 0.320 3 179234230 missense variant A/G snv 1
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38 1
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 1