Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199473283 | 1.000 | 0.120 | 3 | 38551495 | missense variant | C/A;G;T | snv | 4.0E-05 | 2 | ||
rs199473310 | 1.000 | 0.120 | 3 | 38551076 | missense variant | T/A;C;G | snv | 2 | |||
rs199473580 | 1.000 | 0.120 | 3 | 38597926 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs370819854 | 3 | 38551456 | missense variant | C/G | snv | 8.0E-06 | 1 | ||||
rs2200733 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 12 | ||
rs72544141 | 0.925 | 0.120 | 4 | 113348277 | missense variant | A/G | snv | 5.5E-04 | 8.3E-04 | 4 | |
rs755373114 | 0.925 | 0.080 | 4 | 113341742 | missense variant | A/C | snv | 7.2E-05 | 3 | ||
rs1204372364 | 1.000 | 0.120 | 4 | 113355900 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs35530544 | 1.000 | 0.080 | 4 | 113367751 | missense variant | C/A | snv | 2.5E-03 | 1.0E-02 | 2 | |
rs104893907 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 3 | ||||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs869025337 | 0.925 | 0.120 | 6 | 105124593 | missense variant | G/A;C | snv | 4.0E-06 | 5 | ||
rs220733 | 1.000 | 0.080 | 6 | 159897771 | intron variant | A/C;G | snv | 0.99 | 3 | ||
rs397515458 | 0.925 | 0.080 | 6 | 123503899 | stop gained | G/A | snv | 3.1E-05 | 5.6E-05 | 3 | |
rs1355262401 | 1.000 | 0.080 | 6 | 121447691 | missense variant | T/G | snv | 7.0E-06 | 2 | ||
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs104894021 | 0.851 | 0.120 | 7 | 150951629 | missense variant | G/C;T | snv | 5 | |||
rs199472936 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 5 | |||
rs121912507 | 0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv | 4 | |||
rs773724817 | 0.925 | 0.160 | 7 | 150948861 | stop gained | G/A | snv | 4.0E-06 | 4 | ||
rs1254179611 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 3 | |||
rs199473024 | 7 | 150947362 | missense variant | T/C | snv | 7.0E-06 | 2 | ||||
rs794728425 | 1.000 | 0.120 | 7 | 150958220 | frameshift variant | -/GGCGATGGGAGCTGGCCGGG | delins | 2 |