Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 4
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins 4
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs1566734
PTPRJ
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 1
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs281875324
SMAD4
1.000 0.120 18 51065456 missense variant A/C;G snv 3
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
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 21
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/C;G;T snv 17
rs967461896
TP53
0.724 0.240 17 7675086 missense variant A/C;G;T snv 16
rs786203436
TP53
0.701 0.280 17 7675125 missense variant A/C;G;T snv 15
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs876660333
TP53
0.742 0.360 17 7673805 missense variant A/C;G;T snv 13
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs587782289
TP53
0.752 0.240 17 7674257 missense variant A/C;G;T snv 12
rs765848205
TP53
0.763 0.240 17 7674253 missense variant A/C;G;T snv 12