Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4420638 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 43 | ||
rs1557372 | 1.000 | 0.040 | 21 | 41460614 | downstream gene variant | C/T | snv | 0.40 | 2 | ||
rs4291 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 20 | |||
rs1800764 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 10 | |||
rs7759295 | 1.000 | 0.040 | 6 | 41168112 | upstream gene variant | C/G;T | snv | 2 | |||
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs3763043 | 0.925 | 0.080 | 18 | 26855854 | 3 prime UTR variant | C/T | snv | 0.30 | 3 | ||
rs2071430 | 0.807 | 0.320 | 21 | 41426138 | 5 prime UTR variant | G/T | snv | 0.15 | 7 | ||
rs457274 | 1.000 | 0.040 | 21 | 41420558 | 5 prime UTR variant | C/G | snv | 0.35 | 2 | ||
rs4818 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 27 | ||
rs1126680 | 0.851 | 0.160 | 3 | 165837337 | synonymous variant | C/T | snv | 5.6E-02 | 5.6E-02 | 5 | |
rs1206642175 | 0.925 | 0.080 | 6 | 151808263 | synonymous variant | G/A | snv | 7.0E-06 | 3 | ||
rs1556424691 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 13 | |||
rs769449 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 11 | ||
rs10073892 | 5 | 102391066 | non coding transcript exon variant | T/C | snv | 0.24 | 0.21 | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 |