Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398652 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 1
rs405 1.000 0.080 7 91917013 intergenic variant G/A;C;T snv 1
rs584368 1.000 0.080 11 88232053 regulatory region variant C/T snv 0.70 1
rs6078460 1.000 0.080 20 12116249 intergenic variant A/C;G;T snv 1
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 1
rs9275319 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 1
rs2830581 1.000 0.080 21 26921481 3 prime UTR variant G/A;C snv 1
rs387906659 0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs863223904 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 1
rs2276724 1.000 0.080 3 126135566 missense variant T/C snv 0.14 0.15 1
rs999885 0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46 1
rs397514032
APC
1.000 0.080 5 112828923 frameshift variant A/- delins 1
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs116350678 1.000 0.080 16 298233 missense variant C/T snv 4.8E-03 2.3E-02 1
rs117208012 1.000 0.080 16 297063 missense variant C/A;T snv 8.0E-06; 1.6E-02 1
rs587776627 1.000 0.080 16 309973 frameshift variant GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/- del 1
rs779951904 1.000 0.080 16 310055 missense variant G/A snv 2.0E-05 1.4E-05 1
rs587776665 1.000 0.080 2 201285238 frameshift variant GT/- delins 1
rs1049334 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 1
rs710190 0.925 0.200 22 39131785 3 prime UTR variant T/C snv 0.48 1
rs16893344 0.807 0.160 8 133194036 intron variant C/T snv 0.29 1
rs144479038 1.000 0.080 14 54411612 missense variant A/G snv 3.4E-04 2.4E-04 1
rs760687800 1.000 0.080 14 54411563 missense variant C/A;G snv 4.0E-06; 2.4E-05 1
rs4950928 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 1
rs3096380 1.000 0.080 16 71285743 missense variant G/A;C snv 0.94 1