Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80359328 | 0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins | 4 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs4646284 | 0.925 | 0.080 | 6 | 160160511 | downstream gene variant | -/G | delins | 0.31 | 1 | ||
rs80359540 | 0.925 | 0.080 | 13 | 32340176 | frameshift variant | A/- | delins | 3 | |||
rs587781705 | 0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv | 5 | |||
rs12500426 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 3 | ||
rs193920894 | 0.925 | 0.080 | 17 | 49619281 | missense variant | A/C | snv | 2 | |||
rs2069762 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 2 | ||
rs6983561 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 2 | ||
rs137852603 | 1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv | 1 | |||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 15 | ||
rs2735839 | 0.827 | 0.160 | 19 | 50861367 | upstream gene 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 | |||
rs147739031 | 1.000 | 0.080 | 8 | 3389886 | intron variant | A/C;G | snv | 1 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 3 | ||
rs121913396 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 11 | |||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 10 | ||
rs560596101 | 0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 | 5 | ||
rs17309872 | 0.925 | 0.080 | 20 | 34927985 | downstream gene variant | A/C;G;T | snv | 2 | |||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 3 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 3 | ||
rs7611694 | 0.925 | 0.080 | 3 | 113556777 | intron variant | A/C;T | snv | 2 | |||
rs1057519966 | 0.882 | 0.080 | 17 | 49619064 | missense variant | A/C;T | snv | 1 | |||
rs139591993 | 1.000 | 0.080 | 5 | 75596275 | missense variant | A/C;T | snv | 4.0E-06 | 1 |