Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 2
rs35628
ABCC1
1.000 0.080 16 16077249 intron variant A/G snv 0.13 1
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv 3
rs104894194
AIP
0.925 11 67483198 stop gained C/T snv 2.8E-05 2.1E-05 2
rs104894190
AIP
0.882 0.120 11 67490911 missense variant G/A snv 1.7E-03 1.1E-03 1
rs104894195
AIP
0.882 0.120 11 67490910 stop gained C/G;T snv 4.0E-06; 1.2E-05 1
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv 1
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 1
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 4
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 3
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 2
rs863225283
ALK
0.925 0.080 2 29213993 missense variant A/C snv 2
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
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv 1
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv 1
rs1057519785
ALK
1.000 0.040 2 29222404 missense variant A/C snv 1
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs121913332
APC
0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 4
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv 4
rs876658355
APC
0.925 0.120 5 112835073 stop gained C/A;G;T snv 3
rs1057519843
APC
5 112839522 frameshift variant AAGATTGGAAC/- del 1