Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs863224683 | 17 | 7675224 | missense variant | G/A;C | snv | 4 | |||||
rs369999291 | 5 | 112767315 | missense variant | G/A | snv | 2 | |||||
rs767606327 | 4 | 99613118 | missense variant | T/C;G | snv | 1.2E-05; 4.0E-06 | 2 | ||||
rs1057520030 | 7 | 116777427 | missense variant | A/G;T | snv | 1 | |||||
rs1418016570 | 6 | 161973326 | missense variant | G/C | snv | 4.0E-06 | 1 | ||||
rs6842 | 7 | 16794973 | missense variant | A/G;T | snv | 0.43 | 0.38 | 1 | |||
rs876659156 | 5 | 112839714 | missense variant | G/A | snv | 1 | |||||
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 9 | |||
rs188957694 | 0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 | 6 | |
rs121434265 | 0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv | 3 | |||
rs3789243 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 14 | ||
rs1057519855 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 11 | |||
rs1057519824 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 10 | |||
rs61748181 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 10 | |
rs1049074086 | 0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 | 9 | ||
rs202003805 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 6 | ||
rs768824654 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 6 | ||
rs1245554802 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
rs35690297 | 1.000 | 0.120 | 7 | 6002584 | start lost | T/A;C | snv | 5 | |||
rs368094521 | 0.925 | 0.120 | 17 | 39724861 | missense variant | G/A | snv | 1.2E-03 | 2.6E-04 | 5 | |
rs587779383 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 5 | |||
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs773647920 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 5 | |
rs786202567 | 1.000 | 0.120 | 7 | 5992027 | missense variant | T/A;C | snv | 4.0E-06 | 1.4E-05 | 5 |