Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs70991108 | 0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 | 6 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs712 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 24 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 18 | ||
rs6457327 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 7 | ||
rs12500426 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 5 | ||
rs2231231 | 0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 | 5 | |
rs7201 | 0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 | 4 | ||
rs770251749 | 1.000 | 0.120 | 6 | 54121506 | missense variant | A/C | snv | 4.0E-06 | 2 | ||
rs1536826 | 1.000 | 0.120 | 10 | 133543735 | intron variant | A/C | snv | 0.62 | 1 | ||
rs9260484 | 1.000 | 0.120 | 6 | 29952476 | upstream gene variant | A/C | snv | 0.62 | 1 | ||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs11249433 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 9 | |||
rs2735839 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 7 | |||
rs29230 | 0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 | 6 | ||
rs3790844 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 4 | |||
rs7127900 | 0.882 | 0.160 | 11 | 2212344 | intergenic variant | A/C;G | snv | 3 | |||
rs7130881 | 0.882 | 0.160 | 11 | 69228491 | intergenic variant | A/C;G | snv | 3 | |||
rs2076483 | 0.925 | 0.240 | 6 | 29603768 | intron variant | A/C;G | snv | 3.1E-05; 0.13 | 2 | ||
rs9110 | 0.851 | 0.200 | 3 | 46439310 | missense variant | A/C;G;T | snv | 0.39 | 0.40 | 4 | |
rs2860580 | 1.000 | 0.120 | 6 | 29938914 | upstream gene variant | A/C;G;T | snv | 2 | |||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs9138 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 12 |