Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9897526 | 0.925 | 0.120 | 17 | 44349572 | non coding transcript exon variant | G/A;C | snv | 0.16 | 2 | ||
rs981951447 | 0.925 | 0.120 | 5 | 87268726 | missense variant | C/T | snv | 2 | |||
rs9792144 | 1.000 | 0.120 | 8 | 52168991 | intron variant | C/G | snv | 0.15 | 1 | ||
rs969413 | 1.000 | 0.120 | 17 | 81222014 | intron variant | T/A | snv | 0.39 | 1 | ||
rs964520949 | 0.925 | 0.120 | 7 | 56019715 | missense variant | C/T | snv | 2.2E-04; 4.0E-06 | 1.9E-04 | 2 | |
rs9319617 | 1.000 | 0.120 | 17 | 81218646 | intron variant | T/C | snv | 0.47 | 1 | ||
rs9268877 | 0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv | 5 | |||
rs9268856 | 0.807 | 0.240 | 6 | 32461942 | intron variant | C/A;T | snv | 6 | |||
rs906175 | 1.000 | 0.120 | 17 | 81199662 | non coding transcript exon variant | C/T | snv | 0.37 | 1 | ||
rs901115236 | 0.882 | 0.120 | 22 | 23767531 | missense variant | G/A;T | snv | 1.5E-05; 1.5E-05 | 3 | ||
rs867403430 | 1.000 | 0.120 | 20 | 50113113 | missense variant | C/A | snv | 1 | |||
rs866802945 | 1.000 | 0.120 | 17 | 45983229 | missense variant | C/T | snv | 1 | |||
rs866604606 | 0.882 | 0.120 | 22 | 21772907 | missense variant | G/A | snv | 4 | |||
rs863225291 | 0.925 | 0.200 | 9 | 35067922 | missense variant | T/A | snv | 3 | |||
rs80356730 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 7 | ||
rs80356726 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 12 | ||
rs80356715 | 0.807 | 0.120 | 1 | 11016874 | missense variant | C/G;T | snv | 8.0E-06; 2.2E-04 | 6 | ||
rs794729672 | 1.000 | 0.120 | 17 | 44349249 | frameshift variant | -/C | delins | 1 | |||
rs794729671 | 1.000 | 0.120 | 17 | 44352080 | frameshift variant | -/T | delins | 1 | |||
rs794729670 | 1.000 | 0.120 | 17 | 44351409 | stop gained | T/C;G | snv | 1 | |||
rs794729669 | 1.000 | 0.120 | 17 | 44350341 | splice donor variant | G/C | snv | 1 | |||
rs78268395 | 1.000 | 0.120 | 3 | 87253740 | missense variant | G/A | snv | 1.5E-03 | 6.9E-03 | 1 | |
rs781587642 | 0.851 | 0.120 | 2 | 219250557 | missense variant | G/A;C | snv | 2.0E-05 | 6 | ||
rs781049584 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 18 | |
rs7791726 | 1.000 | 0.120 | 7 | 12243703 | downstream gene variant | G/C | snv | 0.52 | 1 |