Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs1200003171 | 0.882 | 0.120 | 14 | 104775122 | missense variant | C/A;T | snv | 8.0E-06 | 4 | ||
rs2494737 | 0.925 | 0.080 | 14 | 104779988 | intron variant | T/A | snv | 0.40 | 2 | ||
rs2494750 | 0.925 | 0.080 | 14 | 104796575 | upstream gene variant | G/C | snv | 0.86 | 2 | ||
rs72715985 | 0.925 | 0.080 | 14 | 104797210 | upstream gene variant | C/T | snv | 2.6E-02 | 2 | ||
rs74090038 | 0.925 | 0.080 | 14 | 104796444 | upstream gene variant | C/T | snv | 0.29 | 2 | ||
rs2498796 | 1.000 | 0.080 | 14 | 104776883 | non coding transcript exon variant | G/A | snv | 0.33 | 1 | ||
rs892119 | 0.925 | 0.080 | 19 | 40254165 | intron variant | C/T | snv | 0.19 | 2 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs429358 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 66 | |
rs11542041 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 23 | ||
rs6152 | 0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 | 9 | |
rs1204038 | 0.882 | 0.160 | X | 67568383 | intron variant | G/A | snv | 0.36 | 3 | ||
rs4987886 | 0.925 | 0.080 | 11 | 108225326 | 5 prime UTR variant | A/T | snv | 3.0E-02 | 2 | ||
rs911162 | 1.000 | 0.080 | 20 | 56391393 | intron variant | A/C;G | snv | 1 | |||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs3768235 | 0.925 | 0.080 | 1 | 85267691 | missense variant | C/T | snv | 8.0E-06; 6.5E-02 | 4.5E-02 | 2 | |
rs7579014 | 1.000 | 0.080 | 2 | 60480759 | intron variant | G/A | snv | 0.55 | 2 | ||
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs60856912 | 1.000 | 0.080 | 17 | 67896227 | intron variant | G/T | snv | 0.32 | 1 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs80357115 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 8 | |||
rs80357929 | 0.851 | 0.200 | 17 | 43092663 | frameshift variant | A/- | del | 4 |