Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691741 | 1.000 | 0.160 | 13 | 51937305 | missense variant | T/G | snv | 7.0E-06 | 1 | ||
rs1333619338 | 1.000 | 0.160 | 13 | 51937315 | missense variant | C/T | snv | 1 | |||
rs753330854 | 1.000 | 0.160 | 13 | 51937332 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-04 | 1 | ||
rs193922109 | 1.000 | 0.160 | 13 | 51937342 | stop gained | G/A | snv | 7.6E-05 | 8.4E-05 | 1 | |
rs1057516228 | 1.000 | 0.160 | 13 | 51937349 | frameshift variant | C/- | delins | 1 | |||
rs1057516227 | 1.000 | 0.160 | 13 | 51937354 | frameshift variant | TG/- | del | 1 | |||
rs749380700 | 1.000 | 0.160 | 13 | 51937367 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs377144951 | 1.000 | 0.160 | 13 | 51937383 | missense variant | A/G | snv | 1.4E-05 | 1 | ||
rs1057517233 | 1.000 | 0.160 | 13 | 51937395 | splice acceptor variant | T/C | snv | 1 | |||
rs749472361 | 1.000 | 0.160 | 13 | 51937484 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 1 | ||
rs753044473 | 1.000 | 0.160 | 13 | 51937487 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 1 | |
rs199821556 | 1.000 | 0.160 | 13 | 51937493 | missense variant | C/T | snv | 2.0E-04 | 1.5E-04 | 1 | |
rs1340942427 | 1.000 | 0.160 | 13 | 51937495 | missense variant | G/T | snv | 1 | |||
rs776300396 | 1.000 | 0.160 | 13 | 51937502 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 1 | |
rs373748155 | 1.000 | 0.160 | 13 | 51937516 | missense variant | G/A;C | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs762866453 | 1.000 | 0.160 | 13 | 51937520 | missense variant | C/T | snv | 3.6E-05 | 9.1E-05 | 1 | |
rs755202606 | 1.000 | 0.160 | 13 | 51937537 | missense variant | C/G;T | snv | 8.0E-06 | 1 | ||
rs778914828 | 1.000 | 0.160 | 13 | 51937543 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs758355520 | 1.000 | 0.160 | 13 | 51937561 | missense variant | G/A;T | snv | 2.4E-05 | 1 | ||
rs121907990 | 0.925 | 0.240 | 13 | 51937570 | missense variant | T/A;C | snv | 4.0E-06; 2.2E-04 | 1 | ||
rs1555283900 | 1.000 | 0.160 | 13 | 51937570 | frameshift variant | T/- | delins | 1 | |||
rs1314712150 | 1.000 | 0.160 | 13 | 51937577 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1057516740 | 1.000 | 0.160 | 13 | 51937579 | frameshift variant | T/- | del | 1 | |||
rs1555283916 | 1.000 | 0.160 | 13 | 51937579 | missense variant | T/G | snv | 1 | |||
rs121907992 | 1.000 | 0.160 | 13 | 51937583 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 1 |