Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs547116051 | 1.000 | 0.040 | 17 | 45980520 | intron variant | -/C | ins | 1 | |||
rs532464664 | 0.882 | 0.040 | 22 | 41238083 | frameshift variant | -/GCCCGCGC | delins | 4.8E-03 | 1.2E-02 | 3 | |
rs150365637 | 1.000 | 0.040 | 8 | 9222261 | intron variant | -/T | delins | 0.13 | 1 | ||
rs3830675 | 1.000 | 0.040 | 10 | 87931195 | intron variant | -/TCTTA | delins | 3 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs10654220 | 1.000 | 0.040 | 12 | 123218875 | intron variant | -/TGT;TGTTGT | delins | 2 | |||
rs11409738 | 1.000 | 0.040 | 7 | 96090522 | intron variant | A/-;AA;AAA;AAAA | delins | 1 | |||
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs1042667 | 1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 | 3 | |
rs10974438 | 0.925 | 0.120 | 9 | 4291928 | intron variant | A/C | snv | 0.29 | 3 | ||
rs2615977 | 0.925 | 0.080 | 1 | 102986836 | intron variant | A/C | snv | 0.27 | 3 | ||
rs1034762 | 1.000 | 0.040 | 12 | 47995860 | intron variant | A/C | snv | 0.74 | 0.79 | 1 | |
rs11107957 | 1.000 | 0.040 | 12 | 78038275 | intron variant | A/C | snv | 0.20 | 1 | ||
rs1564861 | 1.000 | 0.040 | 8 | 118953670 | upstream gene variant | A/C | snv | 0.43 | 1 | ||
rs3815148 | 1.000 | 0.040 | 7 | 107297975 | intron variant | A/C | snv | 0.20 | 1 | ||
rs2820436 | 0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv | 4 | |||
rs4144782 | 0.925 | 0.040 | 2 | 118844296 | non coding transcript exon variant | A/C;G | snv | 2 | |||
rs6773957 | 1.000 | 0.040 | 3 | 186855916 | 3 prime UTR variant | A/C;G | snv | 0.55 | 2 | ||
rs200818100 | 1.000 | 0.040 | 8 | 89762965 | missense variant | A/C;G | snv | 4.7E-04 | 4.2E-04 | 1 | |
rs602128 | 1.000 | 0.040 | 11 | 102842734 | missense variant | A/C;G | snv | 4.0E-06; 0.57 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 |