Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs1057519938
PIK3CA
0.776 0.160 3 179203764 missense variant A/C;T snv 10
rs1057519983
TP53
0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519933
PIK3CA
0.790 0.240 3 179199156 missense variant A/G snv 11
rs1057519935
PIK3CA
0.790 0.240 3 179199157 missense variant A/G snv 11
rs1057519841
PIK3R1
0.925 0.120 5 68295269 missense variant A/G snv 5
rs1057519760
EGFR
7 55160314 missense variant A/G snv 1
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519740
SMAD4
18 51065532 missense variant C/A snv 1
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs1057520005
TP53
0.742 0.360 17 7673800 missense variant C/A;G snv 11
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25