Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs76151636 | 0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 | 10 | ||
rs367956522 | 0.851 | 0.240 | 13 | 51949798 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.7E-05 | 7 | |
rs732774 | 0.827 | 0.320 | 13 | 51949672 | missense variant | C/T | snv | 0.57 | 0.56 | 5 | |
rs1801243 | 0.851 | 0.200 | 13 | 51974004 | missense variant | A/C;T | snv | 0.44; 2.0E-05 | 4 | ||
rs28942074 | 0.851 | 0.240 | 13 | 51958333 | missense variant | C/A;T | snv | 1.4E-04; 3.2E-05 | 4 | ||
rs9535826 | 0.851 | 0.080 | 13 | 51991990 | intron variant | T/C;G | snv | 4 | |||
rs1057518867 | 1.000 | 0.040 | 13 | 51946381 | missense variant | C/T | snv | 2 | |||
rs1061472 | 0.925 | 0.200 | 13 | 51950352 | missense variant | T/C;G | snv | 0.54 | 2 | ||
rs121907990 | 0.925 | 0.240 | 13 | 51937570 | missense variant | T/A;C | snv | 4.0E-06; 2.2E-04 | 2 | ||
rs1286080173 | 0.925 | 0.160 | 13 | 51942551 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 2 | ||
rs1801249 | 0.925 | 0.080 | 13 | 51941218 | missense variant | A/G;T | snv | 0.57 | 2 | ||
rs201497300 | 0.925 | 0.160 | 13 | 51946337 | missense variant | C/T | snv | 4.6E-05 | 2.8E-05 | 2 | |
rs2147363 | 0.925 | 0.200 | 13 | 51968660 | intron variant | T/G | snv | 0.69 | 2 | ||
rs376910645 | 0.925 | 0.160 | 13 | 51944162 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs749085322 | 0.925 | 0.160 | 13 | 51941132 | missense variant | T/C | snv | 4.0E-05 | 2.1E-05 | 2 | |
rs775541743 | 0.925 | 0.160 | 13 | 51942481 | missense variant | A/T | snv | 4.0E-06 | 2 | ||
rs111871296 | 13 | 52012616 | intron variant | G/A | snv | 4.2E-02 | 2 | ||||
rs1021025464 | 1.000 | 0.160 | 13 | 52012013 | splice region variant | T/C | snv | 9.1E-05 | 1 | ||
rs1484840087 | 1.000 | 0.160 | 13 | 52011759 | intron variant | GCGGTCTCGGCCACC/- | delins | 7.0E-06 | 1 | ||
rs1038582488 | 1.000 | 0.160 | 13 | 51946405 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1045194246 | 1.000 | 0.160 | 13 | 51944303 | non coding transcript exon variant | A/C;T | snv | 4.1E-06; 4.1E-06 | 1 | ||
rs1052485948 | 1.000 | 0.160 | 13 | 51949764 | missense variant | A/C;G;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs1057516227 | 1.000 | 0.160 | 13 | 51937354 | frameshift variant | TG/- | del | 1 | |||
rs1057516228 | 1.000 | 0.160 | 13 | 51937349 | frameshift variant | C/- | delins | 1 | |||
rs1057516305 | 1.000 | 0.160 | 13 | 51970663 | stop gained | C/A | snv | 1 |