Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1057519987
TP53
0.776 0.280 17 7673810 missense variant A/C snv 9
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv 10
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 21
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
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
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs1057519978
TP53
0.763 0.360 17 7675191 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
rs1057519988
TP53
0.776 0.240 17 7673812 missense variant A/C;G;T snv 10
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 11
rs764449808
STK11
1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 1
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519789
DDR2
1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 1