Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12542907 | 8 | 67900953 | intergenic variant | C/G | snv | 0.29 | 5 | ||||
rs12550612 | 8 | 23109256 | intron variant | G/A | snv | 0.83 | 5 | ||||
rs12600856 | 17 | 40007042 | intergenic variant | T/C;G | snv | 5 | |||||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs12752838 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 4 | ||||
rs12936529 | 17 | 16265470 | intron variant | C/T | snv | 0.42 | 3 | ||||
rs1352846 | 4 | 71752058 | intron variant | A/G | snv | 0.22 | 4 | ||||
rs138488218 | 12 | 53354069 | regulatory region variant | A/T | snv | 7.6E-03 | 4 | ||||
rs139707092 | 2 | 168850753 | intron variant | TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT | delins | 5 | |||||
rs143034248 | 11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 | 7 | |||
rs143699489 | 3 | 141208279 | intergenic variant | A/G | snv | 0.22 | 4 | ||||
rs14408 | 11 | 308314 | missense variant | T/C;G | snv | 0.53 | 4 | ||||
rs145013566 | 2 | 218297998 | intron variant | -/C | ins | 5 | |||||
rs146318841 | 6 | 135328483 | intron variant | TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG | delins | 4 | |||||
rs146890554 | 17 | 40017384 | 3 prime UTR variant | C/T | snv | 9.6E-03 | 5 | ||||
rs147694761 | 18 | 23571654 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins | 5 | |||||
rs150813342 | 9 | 132989126 | synonymous variant | C/T | snv | 4.1E-03 | 4.1E-03 | 9 | |||
rs1570884 | 13 | 49547375 | intron variant | A/G | snv | 0.58 | 4 | ||||
rs16978075 | 18 | 44533186 | intron variant | T/C | snv | 8.5E-02 | 5 | ||||
rs174555 | 11 | 61812288 | intron variant | T/C | snv | 0.26 | 3 | ||||
rs17592479 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 4 | ||||
rs1800961 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 17 | |
rs1892534 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 3 | ||
rs192022 | 11 | 108378047 | intron variant | C/G;T | snv | 5 | |||||
rs1968252 | 19 | 7782850 | upstream gene variant | G/A;T | snv | 5 |