Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1015363 | 1.000 | 0.040 | 20 | 34150529 | intergenic variant | G/A | snv | 0.69 | 1 | ||
rs11263498 | 1.000 | 0.040 | 11 | 69567999 | TF binding site variant | T/C | snv | 0.51 | 1 | ||
rs13097028 | 1.000 | 0.040 | 3 | 169747154 | regulatory region variant | C/T | snv | 0.38 | 1 | ||
rs1341866 | 1.000 | 0.040 | 9 | 21771242 | regulatory region variant | T/C | snv | 0.34 | 1 | ||
rs1485993 | 1.000 | 0.040 | 11 | 69547646 | intergenic variant | A/G | snv | 0.49 | 1 | ||
rs2127675 | 1.000 | 0.040 | 6 | 32883073 | upstream gene variant | A/G | snv | 0.36 | 1 | ||
rs228437 | 1.000 | 0.040 | 6 | 134577318 | intron variant | C/A;G;T | snv | 1 | |||
rs6673928 | 1.000 | 0.040 | 1 | 206763900 | downstream gene variant | G/T | snv | 0.20 | 1 | ||
rs6695772 | 1.000 | 0.040 | 1 | 212708597 | intergenic variant | C/G | snv | 0.58 | 1 | ||
rs7033503 | 1.000 | 0.040 | 9 | 21799599 | upstream gene variant | T/C;G | snv | 1 | |||
rs721970 | 1.000 | 0.040 | 20 | 33315727 | upstream gene variant | A/G | snv | 0.96 | 1 | ||
rs1351212535 | 1.000 | 0.040 | 9 | 104831015 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
rs10231520 | 1.000 | 0.040 | 7 | 20742471 | intron variant | C/T | snv | 0.29 | 1 | ||
rs17817117 | 1.000 | 0.040 | 7 | 20685203 | intron variant | G/C | snv | 0.29 | 1 | ||
rs2301641 | 1.000 | 0.040 | 7 | 20658647 | missense variant | A/G | snv | 0.33 | 0.40 | 1 | |
rs749499406 | 1.000 | 0.040 | 16 | 67658771 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs11076650 | 1.000 | 0.040 | 16 | 90001533 | non coding transcript exon variant | G/A | snv | 0.49 | 1 | ||
rs11648898 | 1.000 | 0.040 | 16 | 89979578 | non coding transcript exon variant | A/G | snv | 0.17 | 1 | ||
rs4785759 | 1.000 | 0.040 | 16 | 89984472 | intron variant | A/C;G | snv | 1 | |||
rs1800522 | 1.000 | 0.040 | 21 | 44297667 | synonymous variant | T/C | snv | 1 | |||
rs1231071385 | 1.000 | 0.040 | 2 | 175093177 | frameshift variant | -/G | ins | 1 | |||
rs1281363680 | 1.000 | 0.040 | 3 | 142566228 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs17305657 | 1.000 | 0.040 | 20 | 33218782 | intron variant | T/C | snv | 5.2E-02 | 1 | ||
rs121913225 | 1.000 | 0.040 | 7 | 140753351 | missense variant | A/G | snv | 1 | |||
rs121913226 | 1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del | 1 |