Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7157599 | 0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 | 6 | |
rs116237496 | 1.000 | 0.040 | 8 | 101033687 | upstream gene variant | T/C | snv | 4.0E-02 | 1 | ||
rs76444744 | 1.000 | 0.040 | 2 | 101088883 | intron variant | T/C | snv | 8.1E-03 | 1 | ||
rs2162560 | 1.000 | 0.040 | 19 | 10168778 | intron variant | G/A | snv | 0.35 | 2 | ||
rs1566823361 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 18 | |||
rs7840202 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 4 | ||
rs363050 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 8 | ||
rs1057518813 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 8 | |||
rs145606134 | 0.882 | 0.240 | X | 102937494 | missense variant | A/G | snv | 5.4E-03 | 4.1E-03 | 5 | |
rs4925 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 28 | |
rs3764650 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 9 | ||
rs75316710 | 1.000 | 0.040 | 3 | 10508052 | intron variant | A/G | snv | 2.9E-02 | 1 | ||
rs117932393 | 1.000 | 0.040 | 9 | 106390428 | intron variant | C/T | snv | 8.4E-03 | 1 | ||
rs189037 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 22 | ||
rs1314736087 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 5 | ||
rs80356733 | 0.790 | 0.200 | 1 | 11022451 | missense variant | G/T | snv | 7 | |||
rs80356734 | 0.851 | 0.160 | 1 | 11022464 | missense variant | A/G | snv | 4 | |||
rs190797076 | 1.000 | 0.040 | 4 | 110589931 | intergenic variant | G/A;T | snv | 9.7E-03 | 1 | ||
rs761715536 | 1.000 | 0.040 | 10 | 111079092 | stop gained | G/A;T | snv | 6.4E-06; 1.3E-05 | 3 | ||
rs863225264 | 0.827 | 0.240 | 1 | 11130747 | missense variant | C/T | snv | 6 | |||
rs184904296 | 1.000 | 0.040 | 3 | 112431166 | intergenic variant | A/C;T | snv | 1 | |||
rs74434895 | 1.000 | 0.040 | 1 | 113391450 | intron variant | G/A | snv | 6.8E-03 | 1 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs61819372 | 1.000 | 0.040 | 1 | 113529488 | intron variant | C/A | snv | 6.8E-03 | 1 | ||
rs10447760 | 0.851 | 0.040 | 7 | 114083210 | upstream gene variant | C/T | snv | 0.17 | 4 |