Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 4
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv 6
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv 5
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv 3
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv 7
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv 6
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 6
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 6
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv 4
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 3
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 8
rs1057519909
MAP2K1
0.790 0.240 15 66435116 missense variant A/C snv 6
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv 4
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 2
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 1
rs1057519941
PIK3CA
0.776 0.240 3 179203761 missense variant T/C;G snv 9
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9