Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv 23
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs876658468
TP53
0.689 0.440 17 7674954 missense variant G/A;C;T snv 22
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv 18
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 17
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
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
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
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv 5
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv 5
rs1057519906
IDH2
0.882 0.120 15 90088607 missense variant T/A;C snv 5
rs121913503
IDH2
0.689 0.200 15 90088606 missense variant C/A;T snv 5
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv 4
rs1057519888
EGFR
0.925 0.080 7 55143386 missense variant A/G snv 3
rs139236063
EGFR
0.925 0.080 7 55165350 missense variant G/C;T snv 3