Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3842570 | 0.925 | 0.160 | 2 | 240594824 | intron variant | -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC | delins | 2 | |||
rs11466313 | 1.000 | 0.120 | 19 | 41355432 | intron variant | -/CTC;CTCATGTCCCTGCCCTCCCTCCTC | delins | 0.70 | 1 | ||
rs71361504 | 0.925 | 0.120 | 17 | 43125988 | intron variant | -/GTT | delins | 2 | |||
rs1158932956 | 1.000 | 0.120 | 5 | 69168280 | frameshift variant | -/T | ins | 4.0E-06 | 7.0E-06 | 1 | |
rs316019 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 8 | |
rs13429458 | 0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 | 6 | ||
rs34603401 | 0.882 | 0.280 | 1 | 9245386 | missense variant | A/C | snv | 0.12 | 0.10 | 4 | |
rs10500204 | 0.882 | 0.160 | 19 | 7182952 | intron variant | A/C | snv | 0.25 | 3 | ||
rs12050732 | 1.000 | 0.120 | 15 | 66458277 | intron variant | A/C | snv | 0.20 | 1 | ||
rs2272046 | 1.000 | 0.120 | 12 | 65830681 | intron variant | A/C | snv | 2.1E-02 | 1 | ||
rs628031 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 8 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs10739076 | 1.000 | 0.120 | 9 | 5440589 | upstream gene variant | A/C;T | snv | 1 | |||
rs4449306 | 1.000 | 0.120 | 3 | 188234588 | intron variant | A/C;T | snv | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 |