Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2143571 | 0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 | 5 | ||
rs3753584 | 0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 | 5 | ||
rs3131003 | 0.925 | 0.080 | 6 | 31125705 | 5 prime UTR variant | G/A | snv | 0.52 | 4 | ||
rs9267673 | 0.925 | 0.080 | 6 | 31915902 | intron variant | C/A;T | snv | 0.12 | 4 | ||
rs121913676 | 0.925 | 0.080 | 7 | 116783421 | missense variant | G/A;C;T | snv | 3 | |||
rs17007417 | 0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 | 3 | ||
rs10485505 | 1.000 | 0.080 | 20 | 34437762 | intron variant | C/G;T | snv | 2 | |||
rs121913675 | 0.925 | 0.080 | 7 | 116778953 | missense variant | C/T | snv | 2 | |||
rs121913677 | 0.925 | 0.080 | 7 | 116783402 | missense variant | A/G | snv | 2 | |||
rs12800438 | 1.000 | 0.080 | 11 | 71459957 | non coding transcript exon variant | G/A;T | snv | 2 | |||
rs171915 | 1.000 | 0.080 | 6 | 142545708 | intron variant | G/A | snv | 0.22 | 2 | ||
rs587776802 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 2 | |||
rs66904256 | 0.882 | 0.080 | 7 | 87439777 | missense variant | T/A | snv | 2 | |||
rs778624338 | 1.000 | 0.080 | 3 | 41227270 | stop gained | C/A;T | snv | 2.0E-05 | 7.0E-06 | 2 | |
rs116350678 | 1.000 | 0.080 | 16 | 298233 | missense variant | C/T | snv | 4.8E-03 | 2.3E-02 | 1 | |
rs117208012 | 1.000 | 0.080 | 16 | 297063 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-02 | 1 | ||
rs121434587 | 1.000 | 0.080 | 6 | 160069961 | missense variant | G/T | snv | 1 | |||
rs121434588 | 1.000 | 0.080 | 6 | 160070006 | missense variant | G/A | snv | 1 | |||
rs1413975856 | 1.000 | 0.080 | 3 | 41224579 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
rs144479038 | 1.000 | 0.080 | 14 | 54411612 | missense variant | A/G | snv | 3.4E-04 | 2.4E-04 | 1 | |
rs1553631896 | 1.000 | 0.080 | 3 | 41233836 | frameshift variant | -/A | delins | 1 | |||
rs1554040964 | 1.000 | 0.080 | 5 | 1279417 | missense variant | C/G | snv | 1 | |||
rs1554043088 | 1.000 | 0.080 | 5 | 1294548 | frameshift variant | -/C | delins | 1 | |||
rs1554043124 | 1.000 | 0.080 | 5 | 1294790 | missense variant | G/A | snv | 1 | |||
rs187103704 | 1.000 | 0.080 | 8 | 17713220 | missense variant | T/G | snv | 6.3E-04 | 2.6E-04 | 1 |