Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs786205228
PPP2R1A
0.827 0.080 19 52212718 missense variant C/G;T snv 3
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv 5
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs876660807
TP53
0.763 0.160 17 7674248 missense variant T/C snv 12
rs1057519938
PIK3CA
0.776 0.160 3 179203764 missense variant A/C;T snv 10
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv 10
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv 9
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv 8
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs1057519738
MIR4728 ; ERBB2
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 7
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv 6
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 5
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv 5
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs1057519989
TP53
0.732 0.240 17 7674233 missense variant C/A;G;T snv 15
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 11