Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201125580 | 1.000 | 0.040 | 9 | 95467191 | missense variant | C/A;T | snv | 4.0E-06; 3.8E-04 | 1 | ||
rs11707807 | 1.000 | 0.040 | 3 | 188370473 | intron variant | A/G | snv | 0.36 | 1 | ||
rs1327891278 | 1.000 | 0.040 | 8 | 55950487 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1064793400 | 1.000 | 0.040 | 3 | 37048550 | missense variant | G/A | snv | 1 | |||
rs470558 | 1.000 | 0.040 | 11 | 102795585 | synonymous variant | T/C | snv | 0.92 | 0.95 | 1 | |
rs5854 | 1.000 | 0.040 | 11 | 102790143 | 3 prime UTR variant | G/A | snv | 0.29 | 1 | ||
rs1064793981 | 1.000 | 0.040 | 2 | 47475030 | missense variant | G/A | snv | 1 | |||
rs1295445617 | 1.000 | 0.040 | 2 | 47403398 | synonymous variant | G/A;C;T | snv | 4.5E-06; 4.5E-06 | 1 | ||
rs3732183 | 1.000 | 0.040 | 2 | 47466820 | intron variant | G/A;T | snv | 0.34; 4.0E-06 | 0.40 | 1 | |
rs149906873 | 1.000 | 0.040 | 15 | 28088564 | intron variant | G/A | snv | 1 | |||
rs1607237 | 1.000 | 0.040 | 3 | 179232509 | intron variant | C/T | snv | 0.68 | 1 | ||
rs779417284 | 1.000 | 0.040 | 9 | 95449149 | missense variant | C/T | snv | 2.4E-05 | 1 | ||
rs10971638 | 1.000 | 0.040 | 9 | 33674679 | non coding transcript exon variant | C/T | snv | 0.21 | 1 | ||
rs865005 | 1.000 | 0.040 | 9 | 33677060 | non coding transcript exon variant | G/A | snv | 4.2E-02 | 1 | ||
rs764496629 | 1.000 | 0.040 | 3 | 12590859 | missense variant | C/T | snv | 1 | |||
rs773132865 | 1.000 | 0.040 | 16 | 30783312 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs532172691 | 1.000 | 0.040 | 1 | 153563811 | stop gained | G/A | snv | 2.2E-04 | 3.4E-04 | 1 | |
rs13301660 | 1.000 | 0.040 | 9 | 136446350 | intron variant | C/T | snv | 0.20 | 1 | ||
rs771590775 | 1.000 | 0.040 | 5 | 1294350 | missense variant | C/A;G | snv | 1 | |||
rs2298211 | 1.000 | 0.040 | 1 | 1211863 | intron variant | A/C | snv | 8.1E-02 | 8.2E-02 | 1 | |
rs7250795 | 1.000 | 0.040 | 19 | 11978928 | missense variant | C/G;T | snv | 4.0E-06; 1.7E-02 | 1 | ||
rs1412115 | 0.925 | 0.080 | 10 | 33799125 | regulatory region variant | T/C | snv | 0.58 | 2 | ||
rs6503659 | 1.000 | 0.040 | 17 | 41741012 | intergenic variant | A/C;G;T | snv | 2 | |||
rs6413464 | 1.000 | 0.040 | 9 | 21970980 | missense variant | C/A;G | snv | 1.3E-03; 4.1E-06 | 2 | ||
rs6819385 | 0.925 | 0.080 | 4 | 40337557 | intron variant | A/G | snv | 0.52 | 2 |