Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1057519933
PIK3CA
0.790 0.240 3 179199156 missense variant A/G snv 11
rs1057519934
PIK3CA
0.790 0.240 3 179199158 missense variant G/C snv 11
rs1057519935
PIK3CA
0.790 0.240 3 179199157 missense variant A/G snv 11
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 11
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11
rs80338963
SMAD4
0.776 0.280 18 51065548 missense variant C/A;G;T snv 11
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv 10
rs1057519929
PIK3CA
0.776 0.320 3 179199066 missense variant G/A snv 9
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs587777894
MTOR
0.776 0.240 1 11124516 missense variant G/A;T snv 9
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv 8
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs104894231
LRRC56 ; HRAS
0.776 0.360 11 533467 missense variant C/G;T snv 7
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv 7
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv 7
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 7
rs121917759
HRAS ; LRRC56
0.790 0.480 11 533466 missense variant G/A snv 7
rs749415085
PIK3CA
0.807 0.160 3 179198937 missense variant C/A;G;T snv 7