Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs947211 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 3 | ||
rs670139 | 0.925 | 0.080 | 11 | 60204322 | intron variant | G/A;T | snv | 3 | |||
rs398122414 | 0.925 | 0.120 | 20 | 4699898 | stop gained | C/A | snv | 3 | |||
rs751882709 | 0.925 | 0.160 | 20 | 4699855 | missense variant | A/C | snv | 1.6E-05 | 2.8E-05 | 3 | |
rs80356710 | 0.925 | 0.040 | 20 | 4699655 | stop gained | T/G | snv | 3 | |||
rs11767557 | 0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 | 4 | ||
rs2814707 | 0.882 | 0.120 | 9 | 27536399 | non coding transcript exon variant | C/G;T | snv | 4 | |||
rs1178466848 | 0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 | 4 | ||
rs193922906 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 4 | |||
rs398122370 | 0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv | 4 | |||
rs74315411 | 0.882 | 0.160 | 20 | 4699767 | missense variant | A/G | snv | 4 | |||
rs761807915 | 0.925 | 0.120 | 20 | 4699824 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs80356711 | 1.000 | 20 | 4699698 | stop gained | C/T | snv | 4 | ||||
rs2736990 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 4 | |||
rs372805579 | 0.851 | 0.200 | 17 | 80195302 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 5 | |
rs610932 | 0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 | 5 | ||
rs16990018 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 5 | |
rs74315406 | 0.851 | 0.160 | 20 | 4699870 | missense variant | A/G | snv | 5 | |||
rs74315412 | 0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 5 | |
rs74315414 | 0.882 | 0.200 | 20 | 4699533 | missense variant | C/A;T | snv | 4.0E-06 | 5 | ||
rs74315405 | 0.827 | 0.160 | 20 | 4699813 | missense variant | T/C | snv | 6 | |||
rs393152 | 0.851 | 0.160 | 17 | 45641777 | non coding transcript exon variant | A/G | snv | 0.18 | 0.29 | 7 | |
rs74315402 | 0.882 | 0.200 | 20 | 4699570 | missense variant | C/T | snv | 7 | |||
rs744373 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 8 | ||
rs3865444 | 0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 | 8 |