Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10177414 | 1.000 | 0.040 | 2 | 227346754 | non coding transcript exon variant | T/C | snv | 0.33 | 1 | ||
rs10189905 | 0.925 | 0.040 | 2 | 198814386 | intergenic variant | T/G | snv | 0.12 | 2 | ||
rs10226930 | 0.925 | 0.040 | 7 | 156044601 | intergenic variant | T/C | snv | 5.3E-02 | 2 | ||
rs10435539 | 1.000 | 0.040 | 8 | 108155322 | intergenic variant | G/A | snv | 0.17 | 1 | ||
rs10946507 | 1.000 | 0.040 | 6 | 22100138 | intron variant | G/A;T | snv | 1 | |||
rs1114167291 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 10 | |||
rs11244084 | 1.000 | 0.040 | 9 | 133324174 | downstream gene variant | C/T | snv | 5.2E-02 | 1 | ||
rs1129038 | 0.851 | 0.120 | 15 | 28111713 | 3 prime UTR variant | C/T | snv | 0.49 | 0.50 | 8 | |
rs1151008 | 0.925 | 0.040 | 12 | 31944426 | intron variant | G/T | snv | 0.55 | 2 | ||
rs115732928 | 1.000 | 0.040 | 1 | 213980745 | intron variant | A/T | snv | 3.6E-02 | 1 | ||
rs116771750 | 1.000 | 0.040 | 1 | 219525708 | intergenic variant | T/C | snv | 2.6E-02 | 1 | ||
rs12196123 | 1.000 | 0.040 | 6 | 22082034 | intron variant | C/T | snv | 0.47 | 1 | ||
rs12212674 | 1.000 | 0.040 | 6 | 22086845 | intron variant | T/A | snv | 0.48 | 1 | ||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1366200 | 1.000 | 0.040 | 5 | 115986122 | intron variant | T/G | snv | 0.41 | 1 | ||
rs139743 | 1.000 | 0.040 | 22 | 24903462 | intron variant | A/G | snv | 0.53 | 1 | ||
rs1401327 | 1.000 | 0.040 | 2 | 49820345 | intergenic variant | G/A | snv | 0.12 | 1 | ||
rs141045115 | 1.000 | 0.040 | 21 | 41015177 | intron variant | G/C;T | snv | 1 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1563183492 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 32 | |||
rs1566911709 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 15 | |||
rs1569548274 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 43 | |||
rs17172445 | 1.000 | 0.040 | 7 | 55121522 | intron variant | G/T | snv | 2.2E-02 | 1 | ||
rs2309717 | 1.000 | 0.040 | 4 | 28248616 | intron variant | C/A | snv | 0.19 | 1 |