Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs112630268 | 1.000 | 0.120 | 13 | 113919624 | non coding transcript exon variant | -/G | ins | 1 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs113652681 | 1.000 | 0.120 | 6 | 33339623 | downstream gene variant | -/G;TG | ins | 1 | |||
rs373094430 | 1.000 | 0.120 | 6 | 32622847 | TF binding site variant | -/C | ins | 1 | |||
rs112300936 | 1.000 | 0.120 | 1 | 116738074 | downstream gene variant | C/- | del | 8.5E-04 | 1 | ||
rs10683701 | 1.000 | 0.120 | 12 | 57698305 | intron variant | -/ACTT | delins | 0.61 | 1 | ||
rs201386475 | 1.000 | 0.120 | 6 | 32668286 | 5 prime UTR variant | -/CA | delins | 1 | |||
rs397897657 | 1.000 | 0.120 | 21 | 44230126 | intron variant | -/G | delins | 1.7E-04 | 1 | ||
rs56323213 | 1.000 | 0.120 | 21 | 44230126 | intron variant | -/G | delins | 1 | |||
rs574503121 | 1.000 | 0.120 | 6 | 33090337 | downstream gene variant | -/ATTT | delins | 4.3E-04 | 1 | ||
rs63750953 | 0.790 | 0.400 | 11 | 5227097 | 5 prime UTR variant | TT/- | delins | 7.0E-06 | 1 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 39 | |
rs964184 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 38 | ||
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 36 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 34 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 31 | |
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 | |||
rs6679677 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 26 | ||
rs121912656 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 20 | ||
rs34536443 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 20 | |
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 20 | ||
rs72928038 | 0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 | 19 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 19 | |||
rs2187668 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 18 | ||
rs706778 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 17 |