Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10878640 12 67643308 intergenic variant G/T snv 0.32 1
rs12827748 12 79694798 intron variant T/C snv 0.50 1
rs2155225 11 76640853 intergenic variant A/T snv 0.61 1
rs6082527 20 2256129 intron variant G/A snv 0.88 1
rs200246711 2 219216057 missense variant C/A;T snv 2.0E-04 1
rs1467080090 2 210216495 missense variant A/G snv 4.0E-06 1
rs935677460 2 236581132 missense variant G/A;C snv 1.6E-05; 8.0E-06 1
rs779515559 1 154597124 missense variant T/C snv 1.2E-05 1
rs16850799 1 202950723 intron variant G/A snv 0.20 1
rs11612414 12 1722472 intron variant G/A snv 1.9E-02 1
rs2058033 12 1695714 intron variant T/G snv 0.12 1
rs558845106 8 26770370 missense variant C/A;T snv 3.7E-04 1
rs761940225 8 26756573 3 prime UTR variant C/T snv 6.3E-06 7.0E-06 1
rs753626670
AFP
4 73437179 synonymous variant C/T snv 8.0E-06 1
rs149968577 6 32181364 stop gained G/A;C snv 1.0E-04 1
rs1380514442 14 104780205 missense variant T/C snv 4.0E-06 1
rs113866835
ALK
2 29220897 3 prime UTR variant T/C snv 3.8E-03 1
rs1453682751
ALK
2 29193487 missense variant C/G snv 4.0E-06 1
rs3738867
ALK
2 29209910 intron variant T/C snv 3.9E-02 9.5E-02 1
rs763078849 10 37158402 missense variant T/A snv 4.0E-06 1
rs1051554521 5 151128211 missense variant G/A snv 2.0E-04 7.0E-05 1
rs1057519843
APC
5 112839522 frameshift variant AAGATTGGAAC/- del 1
rs1057519844
APC
5 112839522 frameshift variant AAGATTGGAACTAGGTCAGC/- del 1
rs1057519845
APC
5 112839990 frameshift variant GGACC/- del 1
rs1057519846
APC
5 112840263 frameshift variant ATTGATTC/- del 1