Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs7517847 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 19 | ||
rs7528684 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 13 | ||
rs1234314 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 7 | |||
rs1234315 | 0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 | 6 | ||
rs11584340 | 0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 | 5 | |
rs1310182 | 0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 | 4 | ||
rs310241 | 0.882 | 0.360 | 1 | 64837655 | intron variant | A/G | snv | 0.37 | 3 | ||
rs6692977 | 0.882 | 0.200 | 1 | 157517598 | intron variant | T/C;G | snv | 3 | |||
rs2070902 | 1.000 | 0.120 | 1 | 161217875 | intron variant | C/T | snv | 0.31 | 2 | ||
rs3790532 | 0.925 | 0.320 | 1 | 64837707 | intron variant | G/A | snv | 2.3E-02 | 2 | ||
rs138050288 | 1.000 | 0.120 | 1 | 8400188 | intron variant | CA/- | del | 0.22 | 1 | ||
rs2149039 | 1.000 | 0.120 | 1 | 55014701 | 3 prime UTR variant | A/C;T | snv | 1 | |||
rs2780815 | 1.000 | 0.120 | 1 | 64835928 | intron variant | T/C;G | snv | 1 | |||
rs2815765 | 1.000 | 0.120 | 1 | 72286547 | intron variant | T/C | snv | 0.62 | 1 | ||
rs868688 | 1.000 | 0.120 | 1 | 3384243 | intron variant | C/T | snv | 0.54 | 1 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 44 | ||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs231725 | 0.851 | 0.240 | 2 | 203875952 | downstream gene variant | G/A | snv | 0.38 | 4 | ||
rs2164068 | 1.000 | 0.120 | 2 | 198079128 | intron variant | T/A | snv | 0.52 | 3 | ||
rs13395467 | 1.000 | 0.120 | 2 | 8311368 | intron variant | A/G | snv | 0.24 | 2 | ||
rs950881 | 1.000 | 0.120 | 2 | 102316052 | intron variant | G/A;T | snv | 2 |