Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11769630 | 7 | 50218107 | intron variant | T/A | snv | 5.4E-02 | 4 | ||||
rs12752838 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 4 | ||||
rs138488218 | 12 | 53354069 | regulatory region variant | A/T | snv | 7.6E-03 | 4 | ||||
rs143699489 | 3 | 141208279 | intergenic variant | A/G | snv | 0.22 | 4 | ||||
rs552557467 | 11 | 47927817 | regulatory region variant | AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | delins | 0.47 | 4 | ||||
rs56232812 | 1 | 27859995 | intergenic variant | A/C | snv | 0.11 | 4 | ||||
rs575404063 | 19 | 18405498 | intergenic variant | AAA/-;A;AA;AAAA;AAAAA | delins | 4 | |||||
rs58548501 | 4 | 54635119 | intergenic variant | -/A;ATTTTTTTTTA | ins | 0.43 | 4 | ||||
rs6986779 | 8 | 141327691 | downstream gene variant | C/T | snv | 0.34 | 4 | ||||
rs71191701 | 9 | 136427805 | downstream gene variant | G/C;T | snv | 4 | |||||
rs7537229 | 1 | 56440602 | intron variant | G/A | snv | 0.92 | 4 | ||||
rs778387 | 1 | 56158423 | intron variant | C/A;G;T | snv | 4 | |||||
rs7405635 | 17 | 40204299 | regulatory region variant | T/C | snv | 0.34 | 3 | ||||
rs8068017 | 17 | 1417822 | downstream gene variant | T/A;C | snv | 3 | |||||
rs2734031 | 3 | 128582547 | intergenic variant | T/C | snv | 0.90 | 1 | ||||
rs34599082 | 1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 | 7 | |||
rs9872440 | 3 | 42854959 | intron variant | T/C;G | snv | 1 | |||||
rs111930700 | 12 | 51967869 | intron variant | C/G | snv | 8.4E-02 | 4 | ||||
rs146318841 | 6 | 135328483 | intron variant | TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG | delins | 4 | |||||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs5820258 | 17 | 38437623 | intron variant | CC/-;C;CCC;CCCC;CCCCC | delins | 3 | |||||
rs1144700 | 6 | 16744456 | intron variant | C/G;T | snv | 5 | |||||
rs2436845 | 8 | 102840179 | intron variant | G/A | snv | 0.37 | 4 | ||||
rs10173538 | 2 | 159712765 | intron variant | C/G;T | snv | 5 | |||||
rs5747327 | 22 | 17686446 | intron variant | T/A;C;G | snv | 1 |