Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs368900406 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 27 | |
rs1042173 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 14 | ||
rs9486715 | 6 | 96611893 | intron variant | A/C | snv | 0.36 | 1 | ||||
rs121918455 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 31 | |||
rs1011121 | 16 | 75292035 | downstream gene variant | A/C;G | snv | 1 | |||||
rs130060 | 6 | 77463033 | missense variant | A/C;G | snv | 9.9E-03; 4.0E-06 | 1 | ||||
rs2036465 | 1 | 39110310 | intron variant | A/C;G | snv | 1 | |||||
rs3748784 | 1 | 96721618 | upstream gene variant | A/C;G | snv | 0.55 | 1 | ||||
rs1518110 | 0.851 | 0.160 | 1 | 206771516 | intron variant | A/C;T | snv | 5 | |||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs886041091 | 0.807 | 0.120 | 9 | 84751990 | missense variant | A/G | snv | 18 | |||
rs1564691414 | 0.925 | 0.160 | 10 | 89007698 | splice acceptor variant | A/G | snv | 7 | |||
rs6275 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 7 | |
rs17220352 | 9 | 116485780 | intron variant | A/G | snv | 0.21 | 1 | ||||
rs7555006 | 1 | 51014586 | intergenic variant | A/G | snv | 0.48 | 1 | ||||
rs78438709 | 10 | 122441555 | 3 prime UTR variant | A/G | snv | 5.2E-02 | 1 | ||||
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs7300001 | 12 | 110143926 | intron variant | A/G;T | snv | 1 | |||||
rs1563452941 | 0.882 | 0.120 | 8 | 42437137 | stop gained | C/A | snv | 13 | |||
rs12134493 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 4 | ||
rs1555132 | 20 | 32458764 | intron variant | C/A | snv | 0.44 | 1 |