Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553547838 | 0.925 | 0.280 | 2 | 199328709 | stop gained | G/A | snv | 4 | |||
rs1555564126 | 0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins | 9 | |||
rs1057516039 | 0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv | 5 | |||
rs1057519583 | 0.882 | 0.160 | 10 | 103900115 | missense variant | C/G | snv | 3 | |||
rs11624283 | 0.882 | 0.200 | 14 | 105124634 | downstream gene variant | A/G | snv | 0.13 | 3 | ||
rs146753226 | 0.882 | 0.200 | 2 | 45006255 | missense variant | C/T | snv | 1.1E-04 | 4.0E-04 | 3 | |
rs17010021 | 0.882 | 0.200 | 2 | 74534412 | missense variant | T/A | snv | 8.2E-02 | 4.9E-02 | 3 | |
rs2076056 | 0.882 | 0.200 | 6 | 15487551 | intron variant | C/A;G;T | snv | 0.24 | 3 | ||
rs2237138 | 0.882 | 0.200 | 6 | 15463164 | intron variant | T/C | snv | 0.22 | 3 | ||
rs2240307 | 0.882 | 0.200 | 17 | 65558189 | synonymous variant | A/G | snv | 4.4E-02 | 4.2E-02 | 3 | |
rs227493 | 0.882 | 0.200 | 6 | 165071698 | intron variant | A/T | snv | 1.7E-02 | 3 | ||
rs3905385 | 0.882 | 0.200 | 9 | 91906451 | intron variant | T/C | snv | 0.23 | 3 | ||
rs41268753 | 0.882 | 0.200 | 1 | 24342967 | missense variant | C/T | snv | 2.3E-02 | 2.3E-02 | 3 | |
rs545809 | 0.882 | 0.200 | 1 | 24364274 | missense variant | T/A | snv | 0.29 | 0.26 | 3 | |
rs7205289 | 0.882 | 0.200 | 16 | 69933102 | non coding transcript exon variant | C/A | snv | 3 | |||
rs765462548 | 0.882 | 0.160 | 10 | 103898989 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 3 | ||
rs7650466 | 0.851 | 0.200 | 3 | 89481208 | 3 prime UTR variant | C/T | snv | 0.23 | 7 | ||
rs10130587 | 0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 | 5 | ||
rs11466285 | 0.851 | 0.200 | 2 | 70450307 | 3 prime UTR variant | A/C;G | snv | 5 | |||
rs13041247 | 0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 | 5 | ||
rs2239907 | 0.851 | 0.200 | 17 | 28398728 | 3 prime UTR variant | T/C | snv | 0.53 | 5 | ||
rs2269529 | 0.851 | 0.200 | 22 | 36288308 | missense variant | T/C | snv | 0.26 | 0.18 | 5 | |
rs3771523 | 0.851 | 0.200 | 2 | 70450336 | 3 prime UTR variant | C/T | snv | 0.14 | 5 | ||
rs493760 | 0.851 | 0.200 | 5 | 31436933 | intron variant | C/T | snv | 0.74 | 5 | ||
rs560426 | 0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 | 5 |