Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs786203436
TP53
0.701 0.280 17 7675125 missense variant A/C;G;T snv 15
rs765848205
TP53
0.763 0.240 17 7674253 missense variant A/C;G;T snv 12
rs1057519888
EGFR
0.925 0.080 7 55143386 missense variant A/G snv 3
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 2
rs1057519875
ACVR1
0.925 0.120 2 157770385 missense variant C/A snv 2
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs587782664
TP53
0.742 0.320 17 7674252 missense variant C/A;G;T snv 4.0E-06 14
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv 18
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 5
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv 3
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913287
PIK3CA
0.752 0.400 3 179199088 missense variant G/A snv 11
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34