Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs112158604 | 1 | 150724317 | upstream gene variant | GCTTCTGCA/- | delins | 1 | |||||
rs12139775 | 1 | 198625652 | intergenic variant | C/T | snv | 6.3E-02 | 1 | ||||
rs12733073 | 1 | 198710886 | intron variant | G/A;C | snv | 1 | |||||
rs140508453 | 1 | 67015161 | intron variant | AAAAAAAA/-;AA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAAA;AAAAAAAAAA | delins | 1 | |||||
rs146490475 | 1 | 101236803 | upstream gene variant | T/C | snv | 1.9E-02 | 1 | ||||
rs2157691 | 1 | 158613048 | intron variant | G/C | snv | 0.24 | 1 | ||||
rs2746347 | 1 | 56661246 | intron variant | C/T | snv | 0.16 | 1 | ||||
rs34976449 | 1 | 8438266 | 3 prime UTR variant | -/G | delins | 0.66 | 1 | ||||
rs3748022 | 1 | 206496132 | missense variant | C/T | snv | 0.20 | 0.17 | 1 | |||
rs3835397 | 1 | 101236992 | splice donor variant | G/- | del | 9.2E-02 | 1 | ||||
rs41287280 | 1 | 101239021 | missense variant | C/A;G;T | snv | 4.0E-06; 1.4E-02 | 1 | ||||
rs4319365 | 1 | 56442048 | intron variant | G/A | snv | 0.56 | 1 | ||||
rs504848 | 1 | 160824707 | intron variant | C/T | snv | 0.52 | 1 | ||||
rs518785 | 1 | 110817180 | regulatory region variant | G/A | snv | 0.82 | 1 | ||||
rs5780192 | 1 | 203688474 | intron variant | T/-;TT;TTT | delins | 1 | |||||
rs76382185 | 1 | 101182070 | regulatory region variant | C/T | snv | 8.0E-02 | 1 | ||||
rs77046277 | 1 | 101279090 | intergenic variant | C/G | snv | 1.2E-03 | 1 | ||||
rs77372977 | 1 | 101267901 | downstream gene variant | C/G;T | snv | 1 | |||||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs34338164 | 2 | 68388414 | missense variant | A/C | snv | 8.0E-03 | 7.8E-03 | 4 | |||
rs149290349 | 2 | 43224818 | missense variant | G/A;T | snv | 6.7E-02 | 3 | ||||
rs79716587 | 2 | 143129250 | intron variant | G/A | snv | 7.9E-02 | 3 | ||||
rs58106596 | 2 | 231714669 | downstream gene variant | G/A;C | snv | 2 | |||||
rs7578575 | 2 | 25265950 | intron variant | T/A | snv | 0.27 | 2 |