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
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 2
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 6
rs104894190
AIP
0.882 0.120 11 67490911 missense variant G/A snv 1.7E-03 1.1E-03 1
rs104894194
AIP
0.925 11 67483198 stop gained C/T snv 2.8E-05 2.1E-05 2
rs104894195
AIP
0.882 0.120 11 67490910 stop gained C/G;T snv 4.0E-06; 1.2E-05 1
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
rs104894310
SDHD ; TIMM8B
1.000 0.040 11 112086921 stop gained G/A snv 1
rs104894365
KRAS
0.827 0.320 12 25245345 missense variant C/T snv 3
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv 1
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 1
rs1057519698
ALK
0.827 0.120 2 29222347 missense variant A/G;T snv 1
rs1057519702
KIT
1.000 0.040 4 54726020 missense variant T/C snv 1
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 1
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv 1
rs1057519725
KRAS
0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 2
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv 2
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 1
rs1057519738
MIR4728 ; ERBB2
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 7
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv 3
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 17