Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6842 | 7 | 16794973 | missense variant | A/G;T | snv | 0.43 | 0.38 | 1 | |||
rs876659156 | 5 | 112839714 | missense variant | G/A | snv | 1 | |||||
rs1057520030 | 7 | 116777427 | missense variant | A/G;T | snv | 1 | |||||
rs1418016570 | 6 | 161973326 | missense variant | G/C | snv | 4.0E-06 | 1 | ||||
rs369999291 | 5 | 112767315 | missense variant | G/A | snv | 2 | |||||
rs121913480 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 2 | |||
rs1383461329 | 1.000 | 0.120 | 12 | 123389469 | missense variant | C/T | snv | 1.4E-05 | 2 | ||
rs767606327 | 4 | 99613118 | missense variant | T/C;G | snv | 1.2E-05; 4.0E-06 | 2 | ||||
rs876658923 | 1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins | 3 | |||
rs1400966919 | 0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 | 3 | ||
rs121434265 | 0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv | 3 | |||
rs121913245 | 0.925 | 0.120 | 7 | 116783420 | missense variant | T/C | snv | 3 | |||
rs6886 | 0.925 | 0.160 | 2 | 85394936 | missense variant | T/A;C | snv | 0.58 | 4 | ||
rs121913671 | 0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv | 4 | |||
rs267607906 | 1.000 | 0.160 | 3 | 37050576 | stop gained | A/C;G;T | snv | 4 | |||
rs1057520039 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 4 | |||
rs863224683 | 17 | 7675224 | missense variant | G/A;C | snv | 4 | |||||
rs1245554802 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs121913484 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 5 | |||
rs587779383 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 5 | |||
rs786202724 | 0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 | 5 | ||
rs368094521 | 0.925 | 0.120 | 17 | 39724861 | missense variant | G/A | snv | 1.2E-03 | 2.6E-04 | 5 | |
rs773647920 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 5 | |
rs35690297 | 1.000 | 0.120 | 7 | 6002584 | start lost | T/A;C | snv | 5 |