Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs12951053 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 14 | ||
rs121913282 | 0.882 | 0.040 | 3 | 179221072 | missense variant | A/C | snv | 4 | |||
rs7591996 | 0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 | 3 | ||
rs29001322 | 0.882 | 0.040 | 10 | 97462918 | non coding transcript exon variant | A/C;G | snv | 3 | |||
rs770771727 | 0.882 | 0.040 | 6 | 144751941 | missense variant | A/C;G | snv | 4.5E-05; 2.5E-05 | 3 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs8103992 | 0.882 | 0.040 | 19 | 19554834 | regulatory region variant | A/C;T | snv | 3 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs6218 | 0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 | 13 | ||
rs367597251 | 0.807 | 0.080 | 12 | 68839587 | missense variant | A/G | snv | 1.5E-04 | 5.1E-04 | 10 | |
rs7023329 | 0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 | 9 | ||
rs1989839 | 0.790 | 0.160 | 3 | 50341515 | intron variant | A/G | snv | 0.22 | 0.20 | 8 | |
rs9895829 | 0.807 | 0.080 | 17 | 7675361 | 5 prime UTR variant | A/G | snv | 7.4E-02 | 6 | ||
rs10208273 | 0.882 | 0.040 | 2 | 6383862 | intergenic variant | A/G | snv | 0.30 | 3 | ||
rs1061970 | 0.882 | 0.040 | 17 | 50184491 | 3 prime UTR variant | A/G | snv | 0.13 | 3 | ||
rs780673045 | 0.882 | 0.040 | 12 | 68839592 | missense variant | A/G | snv | 1.2E-05 | 3 | ||
rs998075 | 0.882 | 0.040 | 6 | 160047246 | synonymous variant | A/G | snv | 0.53 | 0.54 | 3 | |
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 |