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
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
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
rs1057519738
MIR4728 ; ERBB2
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 7
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv 8
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
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
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
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
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 3
rs1057519960
SF3B2
0.827 0.280 11 66063413 missense variant A/G snv 7
rs1057519962
SMAD4
0.827 0.160 18 51067035 missense variant G/A;T snv 6
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv 12