Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10165970 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 18 | ||
rs17024869 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 18 | ||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs7581886 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 18 | ||
rs2305160 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 9 | |
rs1057519825 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 7 | |||
rs1057519826 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 7 | |||
rs10028805 | 0.882 | 0.160 | 4 | 101816093 | intron variant | G/A | snv | 0.45 | 3 | ||
rs71597109 | 0.925 | 0.120 | 4 | 101819845 | intron variant | C/T | snv | 0.27 | 2 | ||
rs2511713 | 0.925 | 0.120 | 8 | 102565637 | downstream gene variant | A/G | snv | 0.25 | 2 | ||
rs2511714 | 0.925 | 0.120 | 8 | 102566646 | regulatory region variant | T/G | snv | 0.41 | 2 | ||
rs2307842 | 1.000 | 0.120 | 12 | 103947867 | 3 prime UTR variant | GACT/-;GACTGACT | delins | 0.15 | 1 | ||
rs898518 | 0.925 | 0.120 | 4 | 108095668 | intron variant | C/A;T | snv | 2 | |||
rs7690934 | 0.925 | 0.120 | 4 | 108104709 | intron variant | T/C | snv | 0.57 | 2 | ||
rs2003869 | 0.925 | 0.120 | 4 | 108105258 | intron variant | A/C;G;T | snv | 2 | |||
rs371713984 | 1.000 | 0.120 | 11 | 108247110 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs369203092 | 1.000 | 0.120 | 11 | 108247117 | missense variant | T/C | snv | 8.0E-06 | 1 | ||
rs1041569 | 1.000 | 0.120 | 13 | 108267195 | intron variant | T/A;C | snv | 1 | |||
rs9514828 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 12 | ||
rs567060474 | 1.000 | 0.120 | 11 | 108326070 | missense variant | G/A;T | snv | 1.0E-04 | 1 | ||
rs587781894 | 0.882 | 0.360 | 11 | 108365360 | missense variant | G/A;C | snv | 8.0E-06 | 7.0E-06 | 4 | |
rs13401811 | 0.925 | 0.120 | 2 | 110858527 | intron variant | G/A | snv | 0.19 | 2 | ||
rs17483466 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 5 | ||
rs58055674 | 0.925 | 0.120 | 2 | 111074216 | intron variant | T/C | snv | 0.13 | 2 | ||
rs12711846 | 0.851 | 0.160 | 2 | 111098716 | non coding transcript exon variant | A/G | snv | 0.26 | 4 |