Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs868831424 | 1.000 | 0.120 | 7 | 143316340 | missense variant | A/C;G | snv | 4.1E-06 | 1 | ||
rs202217420 | 0.925 | 0.120 | 7 | 143316395 | splice region variant | A/G;T | snv | 3.0E-04 | 2 | ||
rs769312894 | 1.000 | 0.120 | 7 | 143319783 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs1554434400 | 1.000 | 0.120 | 7 | 143319794 | stop gained | C/T | snv | 1 | |||
rs772100356 | 1.000 | 0.120 | 7 | 143319818 | missense variant | A/G | snv | 1.0E-04 | 2.1E-05 | 1 | |
rs759188441 | 0.925 | 0.120 | 7 | 143319838 | synonymous variant | G/A | snv | 8.0E-05 | 4.2E-05 | 2 | |
rs529377088 | 0.925 | 0.120 | 7 | 143320663 | splice acceptor variant | G/A | snv | 4.0E-06 | 2 | ||
rs201509501 | 1.000 | 0.120 | 7 | 143320675 | missense variant | C/T | snv | 3.5E-04 | 1.3E-04 | 1 | |
rs10282312 | 1.000 | 0.120 | 7 | 143320714 | missense variant | G/T | snv | 0.99 | 0.98 | 1 | |
rs748639603 | 0.925 | 0.120 | 7 | 143320771 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs1554434794 | 1.000 | 0.120 | 7 | 143321399 | frameshift variant | C/- | delins | 1 | |||
rs771532474 | 1.000 | 0.120 | 7 | 143321411 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs149729531 | 0.851 | 0.200 | 7 | 143321432 | missense variant | C/G | snv | 1.2E-03 | 7.5E-04 | 6 | |
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs369773321 | 0.925 | 0.120 | 7 | 143321720 | stop gained | G/A;T | snv | 1.6E-05; 4.4E-05 | 2 | ||
rs80356700 | 0.882 | 0.120 | 7 | 143321841 | missense variant | G/A;T | snv | 1.2E-05; 8.0E-06 | 3 | ||
rs1423567292 | 0.925 | 0.120 | 7 | 143323308 | splice region variant | G/- | delins | 4.0E-06 | 1.4E-05 | 2 | |
rs776073429 | 0.925 | 0.120 | 7 | 143323387 | splice donor variant | G/A | snv | 1.6E-05 | 2.1E-05 | 2 | |
rs200621976 | 1.000 | 0.120 | 7 | 143324421 | missense variant | A/G | snv | 8.0E-06 | 1 | ||
rs80356687 | 0.882 | 0.120 | 7 | 143324442 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs757109632 | 0.882 | 0.120 | 7 | 143324468 | missense variant | T/C | snv | 2.1E-05 | 3 | ||
rs150885084 | 0.925 | 0.120 | 7 | 143330772 | missense variant | G/A | snv | 5.6E-05 | 2.8E-05 | 2 | |
rs80356690 | 0.882 | 0.120 | 7 | 143330788 | missense variant | C/G;T | snv | 1.2E-05 | 4 | ||
rs121912805 | 1.000 | 0.120 | 7 | 143330789 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs764100025 | 0.882 | 0.120 | 7 | 143330810 | missense variant | G/A | snv | 1.6E-05 | 3 |