Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10282312 | 1.000 | 0.120 | 7 | 143320714 | missense variant | G/T | snv | 0.99 | 0.98 | 1 | |
rs121912805 | 1.000 | 0.120 | 7 | 143330789 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs121912807 | 1.000 | 0.120 | 7 | 143339534 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs1279658001 | 1.000 | 0.120 | 7 | 143332487 | missense variant | A/C | snv | 1.4E-05 | 1 | ||
rs1554434400 | 1.000 | 0.120 | 7 | 143319794 | stop gained | C/T | snv | 1 | |||
rs1554434794 | 1.000 | 0.120 | 7 | 143321399 | frameshift variant | C/- | delins | 1 | |||
rs1554438574 | 1.000 | 0.120 | 7 | 143342492 | frameshift variant | G/- | delins | 1 | |||
rs1554439817 | 1.000 | 0.120 | 7 | 143350387 | stop gained | C/T | snv | 1 | |||
rs1554439879 | 1.000 | 0.120 | 7 | 143350623 | missense variant | G/A | snv | 1 | |||
rs1563078827 | 1.000 | 0.120 | 7 | 143330898 | splice donor variant | G/A | snv | 1 | |||
rs200621976 | 1.000 | 0.120 | 7 | 143324421 | missense variant | A/G | snv | 8.0E-06 | 1 | ||
rs201509501 | 1.000 | 0.120 | 7 | 143320675 | missense variant | C/T | snv | 3.5E-04 | 1.3E-04 | 1 | |
rs376026619 | 1.000 | 0.120 | 7 | 143332829 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 1 | ||
rs755433272 | 1.000 | 0.120 | 7 | 143350592 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs769312894 | 1.000 | 0.120 | 7 | 143319783 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs771532474 | 1.000 | 0.120 | 7 | 143321411 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs772100356 | 1.000 | 0.120 | 7 | 143319818 | missense variant | A/G | snv | 1.0E-04 | 2.1E-05 | 1 | |
rs777685454 | 1.000 | 0.120 | 7 | 143341952 | missense variant | G/A;C | snv | 2.4E-05; 4.0E-06 | 1 | ||
rs80356706 | 1.000 | 0.120 | 7 | 143351793 | missense variant | C/T | snv | 1.3E-04 | 3.4E-04 | 1 | |
rs868831424 | 1.000 | 0.120 | 7 | 143316340 | missense variant | A/C;G | snv | 4.1E-06 | 1 | ||
rs121912801 | 0.925 | 0.120 | 7 | 143339527 | missense variant | G/T | snv | 1.6E-05 | 1.4E-05 | 2 | |
rs1222525763 | 0.925 | 0.120 | 7 | 143346578 | splice acceptor variant | G/C;T | snv | 4.0E-06 | 2 | ||
rs1273524525 | 0.925 | 0.120 | 7 | 143345763 | splice donor variant | G/A;C;T | snv | 8.7E-06 | 2 | ||
rs1423567292 | 0.925 | 0.120 | 7 | 143323308 | splice region variant | G/- | delins | 4.0E-06 | 1.4E-05 | 2 | |
rs150885084 | 0.925 | 0.120 | 7 | 143330772 | missense variant | G/A | snv | 5.6E-05 | 2.8E-05 | 2 |