Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 7
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs1057519923
NFE2L2
0.807 0.200 2 177234081 missense variant T/A snv 6
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 2
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs967461896
TP53
0.724 0.240 17 7675086 missense variant A/C;G;T snv 16
rs1057519989
TP53
0.732 0.240 17 7674233 missense variant C/A;G;T snv 15
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs587781991
TP53
0.724 0.240 17 7675208 missense variant C/A;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs587782289
TP53
0.752 0.240 17 7674257 missense variant A/C;G;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs765848205
TP53
0.763 0.240 17 7674253 missense variant A/C;G;T snv 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 11
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv 10
rs1057519988
TP53
0.776 0.240 17 7673812 missense variant A/C;G;T snv 10
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv 7