Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 1
rs370004591
TTN-AS1 ; TTN ; LOC101927055
1.000 0.080 2 178776789 missense variant C/T snv 4.0E-06 7.0E-06 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 7
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 5
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 4
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 3
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 3
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 1
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 1
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 1
rs374711533
DCLK3
1.000 0.080 3 36718103 missense variant G/A snv 9.2E-05 1.6E-04 1
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 1
rs772110575
PIK3CA
0.807 0.160 3 179198938 missense variant G/A;T snv 4.0E-06 1
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 1
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 4
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 4
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 1
rs770167074
BMP2K
1.000 0.080 4 78826060 missense variant G/A;C snv 1.6E-05; 4.0E-06 1
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 4
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 2
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 1
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 1
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 1
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 1
rs121918499
FGFR2
0.925 0.160 10 121520048 missense variant C/A;G snv 1