Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv 11
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1057519937
PIK3CA
0.776 0.200 3 179234285 missense variant T/C snv 11
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 11
rs121913287
PIK3CA
0.752 0.400 3 179199088 missense variant G/A snv 11
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv 8
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv 6
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 22
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12