Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2388334 | 0.882 | 0.040 | 6 | 98143746 | intron variant | A/G | snv | 0.39 | 5 | ||
rs11787216 | 1.000 | 0.040 | 8 | 141605122 | intron variant | C/T | snv | 0.26 | 2 | ||
rs13294439 | 1.000 | 0.040 | 9 | 23358877 | intron variant | A/C | snv | 0.32 | 2 | ||
rs4307059 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 2 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 8 | |
rs1452075 | 1.000 | 0.040 | 3 | 62495388 | intron variant | C/T | snv | 0.73 | 4 | ||
rs121908445 | 0.925 | 0.040 | 7 | 148147542 | missense variant | T/C | snv | 3.3E-04 | 1.7E-04 | 1 | |
rs2710102 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 1 | |||
rs7794745 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 1 | ||
rs1396313317 | 1.000 | 0.040 | 7 | 147562137 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 3 | ||
rs769236847 | 0.807 | 0.200 | 7 | 97869011 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 1 | |
rs1564950387 | 1.000 | 0.040 | 11 | 687909 | splice donor variant | A/C | snv | 1 | |||
rs2289195 | 1.000 | 0.040 | 2 | 25240614 | intron variant | G/A | snv | 0.41 | 0.41 | 1 | |
rs886037776 | 0.925 | 0.280 | 9 | 137817477 | stop gained | G/A | snv | 2 | |||
rs10498676 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 1 | ||
rs17606561 | 1.000 | 0.040 | 6 | 10982126 | 3 prime UTR variant | G/A | snv | 0.17 | 1 | ||
rs3756963 | 0.882 | 0.200 | 6 | 11021921 | intron variant | T/C | snv | 0.24 | 1 | ||
rs9468304 | 1.000 | 0.040 | 6 | 11041932 | intron variant | G/A | snv | 0.19 | 1 | ||
rs526126 | 1.000 | 0.040 | 11 | 61857413 | intron variant | G/C;T | snv | 0.81; 8.0E-06 | 2 | ||
rs112795301 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 11 | |||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 2 | ||
rs4534 | 0.925 | 0.240 | 8 | 142879686 | missense variant | C/T | snv | 8.4E-02 | 4.1E-02 | 1 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 1 | |
rs1569305431 | 1.000 | 0.040 | X | 53254702 | frameshift variant | G/- | delins | 1 |