Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121913287
PIK3CA
0.752 0.400 3 179199088 missense variant G/A snv 11
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
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
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C 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
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
rs1057519951
RHOA
0.882 0.080 3 49375472 missense variant C/G;T snv 4
rs1057519954
RHOA
0.882 0.160 3 49375465 missense variant T/A;C;G snv 3
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
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
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
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv 2