Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057520611 | 0.925 | 0.080 | 13 | 32356462 | missense variant | A/G | snv | 2 | |||
rs11571653 | 0.925 | 0.080 | 13 | 32336705 | missense variant | A/G | snv | 2.3E-04 | 1.7E-04 | 2 | |
rs11571707 | 0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 | 7 | |
rs11571818 | 0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 | 17 | |
rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 43 | |
rs1334767632 | 0.925 | 0.080 | 13 | 32332437 | missense variant | T/C | snv | 7.0E-06 | 2 | ||
rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
rs1555283031 | 0.925 | 0.080 | 13 | 32337423 | frameshift variant | ACAT/- | del | 2 | |||
rs15869 | 0.925 | 0.080 | 13 | 32398875 | 3 prime UTR variant | A/C | snv | 0.15 | 3 | ||
rs1799944 | 0.882 | 0.080 | 13 | 32337326 | missense variant | A/G | snv | 5.4E-02 | 4.5E-02 | 5 | |
rs1799955 | 0.925 | 0.080 | 13 | 32355095 | synonymous variant | A/G;T | snv | 0.23; 8.0E-06 | 3 | ||
rs1801426 | 0.882 | 0.120 | 13 | 32398747 | missense variant | A/G | snv | 2.3E-02 | 3.8E-02 | 3 | |
rs1801439 | 0.925 | 0.080 | 13 | 32332843 | synonymous variant | A/G | snv | 5.2E-02 | 3.8E-02 | 2 | |
rs206340 | 0.925 | 0.080 | 13 | 32391173 | intron variant | G/A | snv | 0.21 | 2 | ||
rs28897743 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 8 | ||
rs28897759 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs397507293 | 0.925 | 0.080 | 13 | 32337113 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs397507758 | 0.807 | 0.200 | 13 | 32339456 | stop gained | C/T | snv | 6 | |||
rs397507990 | 0.925 | 0.080 | 13 | 32370999 | frameshift variant | AA/-;AAA | delins | 2 | |||
rs41293475 | 0.882 | 0.080 | 13 | 32332629 | missense variant | C/G;T | snv | 7.6E-04 | 3 | ||
rs41293477 | 0.851 | 0.200 | 13 | 32337513 | stop gained | T/G | snv | 7.0E-06 | 5 | ||
rs41293497 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 14 | ||
rs483353122 | 0.851 | 0.200 | 13 | 32363410 | frameshift variant | -/AG | ins | 4 | |||
rs4942440 | 0.925 | 0.080 | 13 | 32344830 | intron variant | G/A | snv | 0.21 | 2 | ||
rs4987117 | 0.925 | 0.080 | 13 | 32340099 | missense variant | C/T | snv | 1.8E-02 | 1.8E-02 | 4 |