Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34852782 | 0.925 | 0.120 | 7 | 151869086 | intron variant | -/A;AG | ins | 2 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs587778883 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 7 | |||
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs1131691021 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 21 | |||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs2239186 | 0.882 | 0.120 | 12 | 47875627 | intron variant | A/C;G | snv | 0.17 | 5 | ||
rs3790844 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 4 | |||
rs879254154 | 0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv | 4 | |||
rs1859168 | 0.790 | 0.160 | 7 | 27202740 | non coding transcript exon variant | A/C;G;T | snv | 13 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs6475609 | 0.925 | 0.120 | 9 | 22106272 | intron variant | A/C;G;T | snv | 2 | |||
rs2237895 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 10 | |||
rs1049074086 | 0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 | 9 | ||
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 34 | ||
rs11039149 | 0.827 | 0.280 | 11 | 47255124 | intron variant | A/G | snv | 0.19 | 6 | ||
rs11085754 | 0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 | 2 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs1209809979 | 0.925 | 0.120 | 1 | 45568989 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
rs12456874 | 0.925 | 0.120 | 18 | 13366863 | intron variant | A/G | snv | 0.20 | 2 | ||
rs1318 | 0.925 | 0.120 | 17 | 67695266 | 3 prime UTR variant | A/G | snv | 0.30 | 2 | ||
rs138147246 | 0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs1547374 | 0.925 | 0.120 | 21 | 42358786 | downstream gene variant | A/G | snv | 0.32 | 2 |