Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 10
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs121907936
GAA
0.882 0.120 17 80107894 missense variant T/A;C snv 4.2E-05 5.6E-05 2
rs121907937
GAA
0.925 0.120 17 80110950 missense variant G/A snv 4.0E-06 7.0E-06 2
rs121907938
GAA
0.925 0.120 17 80113350 missense variant C/A;T snv 3.9E-05 2
rs121907945
GAA
0.925 0.120 17 80107818 missense variant G/A snv 1.6E-05 2.8E-05 2
rs1800312
GAA
0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04 2
rs28937909
GAA
0.925 0.120 17 80112914 missense variant G/A;T snv 2.5E-05 2
rs28940868
GAA
0.851 0.120 17 80112922 missense variant C/A;T snv 1.2E-04; 8.2E-06 2
rs747610090
GAA
1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05 2
rs764622267
GAA
0.925 0.120 17 80107718 missense variant C/G;T snv 5.1E-06; 5.1E-06 2
rs886043343
GAA
1.000 0.120 17 80118210 frameshift variant CA/- delins 2
rs1055945806
GAA
1.000 0.120 17 80104552 splice region variant C/A;T snv 1
rs1057516189
GAA
1.000 0.120 17 80118706 frameshift variant -/CAGAAGGTGACTG delins 1
rs1057516215
GAA
1.000 0.120 17 80108609 splice donor variant T/C snv 1
rs1057516251
GAA
1.000 0.120 17 80104755 stop gained C/T snv 1
rs1057516277
GAA
1.000 0.120 17 80117005 stop gained C/T snv 1
rs1057516290
GAA
1.000 0.120 17 80108487 splice acceptor variant A/G snv 1
rs1057516327
GAA
1.000 0.120 17 80116991 stop gained G/A snv 1
rs1057516328
GAA
1.000 0.120 17 80116992 stop gained G/A snv 4.0E-06 1
rs1057516341
GAA
1.000 0.120 17 80118710 stop gained C/T snv 1
rs1057516363
GAA
1.000 0.120 17 80117020 stop gained G/T snv 1
rs1057516426
GAA
1.000 0.120 17 80112033 stop gained C/T snv 1
rs1057516503
GAA
1.000 0.120 17 80104867 frameshift variant CT/- del 1
rs1057516520
GAA
1.000 0.120 17 80108528 missense variant A/T snv 1