Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057520036 | 0.925 | 0.080 | 5 | 177093180 | missense variant | A/G | snv | 3 | |||
rs1239905891 | 0.925 | 0.080 | 12 | 102475786 | missense variant | G/A;T | snv | 3 | |||
rs1675126 | 0.925 | 0.080 | 11 | 62138902 | synonymous variant | T/C | snv | 0.84 | 0.88 | 3 | |
rs17506395 | 0.925 | 0.080 | 3 | 189803530 | intron variant | T/G | snv | 0.19 | 3 | ||
rs1972820 | 0.925 | 0.080 | 2 | 211378697 | 3 prime UTR variant | G/A | snv | 0.63 | 3 | ||
rs2787486 | 0.925 | 0.080 | 17 | 55132413 | intron variant | A/C | snv | 0.33 | 3 | ||
rs35490896 | 0.925 | 0.080 | 1 | 35736984 | missense variant | G/A | snv | 5.5E-02 | 6.5E-02 | 3 | |
rs777081311 | 0.925 | 0.080 | 17 | 39710347 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs984257990 | 0.925 | 0.080 | 11 | 2135495 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs11895168 | 0.925 | 0.080 | 2 | 211377467 | 3 prime UTR variant | A/C | snv | 0.68 | 4 | ||
rs13283662 | 0.925 | 0.080 | 9 | 6428530 | intron variant | T/C | snv | 4 | |||
rs747489687 | 0.925 | 0.080 | 8 | 6444626 | frameshift variant | AAGAAATATTGCA/- | delins | 2.3E-04 | 1.0E-04 | 4 | |
rs7716600 | 0.925 | 0.080 | 5 | 44874903 | regulatory region variant | A/C;T | snv | 4 | |||
rs1462893414 | 0.882 | 0.080 | 6 | 151944323 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs587780170 | 0.851 | 0.120 | 22 | 28695786 | missense variant | C/A;G;T | snv | 2.8E-05; 8.0E-06 | 5 | ||
rs753535070 | 0.851 | 0.120 | 1 | 155187350 | missense variant | T/C | snv | 8.0E-06 | 5 | ||
rs121913471 | 0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv | 8 | |||
rs4784227 | 0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 | 8 | ||
rs80357086 | 0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv | 8 | |||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 8 | ||
rs11249433 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 9 | |||
rs1213469537 | 0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs41293463 | 0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 | 9 | ||
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 9 | |||
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 |