Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 5
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 1
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 4
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 3
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 1
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 7
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 4
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 1
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 2
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 1
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 1
rs1423790481
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22008805 missense variant G/A snv 4.5E-06 1
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 1
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 1
rs377577594
DNMT3A
0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 1
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 3
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 5
rs200567905
MYO18B
1.000 0.040 22 26027116 missense variant G/A snv 1.9E-04 1.6E-04 1
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 1
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 1
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 4
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 1
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 1
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 2