Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A snv 5
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv 11
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv 6
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
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
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv 9
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs1057519962
SMAD4
0.827 0.160 18 51067035 missense variant G/A;T snv 6
rs1057519964
LOC107984999 ; SPOP
1.000 0.080 17 49619282 missense variant A/C snv 1
rs1057519965
SPOP ; LOC107984999
1.000 0.080 17 49619280 missense variant G/A;C snv 8.0E-06 1
rs1057519966
LOC107984999 ; SPOP
0.882 0.080 17 49619064 missense variant A/C;T snv 1
rs1057519967
LOC107984999 ; SPOP
1.000 0.080 17 49619063 missense variant A/C;G snv 1
rs1057519968
SPOP ; LOC107984999
0.925 0.120 17 49619070 missense variant A/C;T snv 2
rs1057519969
LOC107984999 ; SPOP
0.925 0.120 17 49619069 missense variant C/G snv 2
rs1057519970
SPOP ; LOC107984999
0.925 0.120 17 49619068 missense variant C/A snv 2