Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1558518449 | 1.000 | 0.040 | 2 | 47475221 | frameshift variant | ATGACGTA/- | delins | 1 | |||
rs2291427 | 0.925 | 0.040 | 10 | 45440776 | intron variant | A/G;T | snv | 2 | |||
rs1555138291 | 0.925 | 0.240 | 11 | 108345859 | stop gained | G/A | snv | 2 | |||
rs11548193 | 0.925 | 0.040 | 19 | 48799813 | missense variant | G/A;C | snv | 0.14 | 2 | ||
rs11670188 | 0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 | 2 | ||
rs1558650888 | 0.925 | 0.040 | 2 | 25234308 | missense variant | G/A | snv | 2 | |||
rs9642393 | 0.925 | 0.040 | 7 | 55177954 | intron variant | T/C | snv | 0.24 | 2 | ||
rs7325927 | 0.925 | 0.040 | 13 | 107823165 | intron variant | C/T | snv | 0.38 | 2 | ||
rs3829382 | 0.925 | 0.040 | 13 | 28003551 | 3 prime UTR variant | G/T | snv | 0.46 | 2 | ||
rs11558961 | 0.925 | 0.040 | 17 | 44907319 | 3 prime UTR variant | G/C;T | snv | 0.27; 1.2E-05 | 2 | ||
rs759927375 | 0.925 | 0.040 | 6 | 26020589 | missense variant | G/A;C | snv | 1.2E-05; 8.0E-06 | 2 | ||
rs1435266782 | 0.925 | 0.040 | 15 | 90088633 | missense variant | C/A;T | snv | 4.0E-06 | 2 | ||
rs751859698 | 0.925 | 0.040 | 1 | 75898031 | missense variant | T/A;C | snv | 1.2E-05 | 2 | ||
rs587782603 | 1.000 | 0.040 | 10 | 87952118 | stop gained | G/A;T | snv | 2 | |||
rs8957 | 0.925 | 0.040 | 20 | 63742354 | missense variant | G/T | snv | 0.71 | 0.78 | 2 | |
rs7732320 | 0.925 | 0.040 | 5 | 81423306 | intron variant | C/T | snv | 0.22 | 2 | ||
rs13332653 | 0.882 | 0.040 | 16 | 24578078 | intergenic variant | T/G | snv | 0.11 | 3 | ||
rs9933544 | 0.882 | 0.040 | 16 | 24576962 | downstream gene variant | A/C | snv | 0.29 | 3 | ||
rs10464870 | 0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 | 3 | ||
rs6470745 | 0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 | 3 | ||
rs145929329 | 0.882 | 0.040 | 9 | 22066213 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT | delins | 0.58 | 3 | ||
rs1346787 | 0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv | 3 | |||
rs1057519887 | 0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv | 3 | |||
rs1057519888 | 0.925 | 0.080 | 7 | 55143386 | missense variant | A/G | snv | 3 | |||
rs139236063 | 0.925 | 0.080 | 7 | 55165350 | missense variant | G/C;T | snv | 3 |