Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs151344517 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 31 | |||
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 25 | ||
rs79105258 | 12 | 111280427 | intron variant | C/A;T | snv | 23 | |||||
rs1333049 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 21 | ||
rs12579302 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 19 | ||
rs1565930588 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 19 | |||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 19 | |||
rs11066280 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 18 | ||
rs495828 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 18 | ||
rs3764261 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 17 | ||
rs11575937 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 14 | |||
rs12229654 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 14 | ||
rs1553201258 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 14 | |||
rs1558902 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 14 | ||
rs1057523354 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 13 | |||
rs11191580 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 12 | ||
rs174577 | 1.000 | 0.080 | 11 | 61837342 | intron variant | C/A | snv | 0.38 | 12 | ||
rs2070895 | 0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 | 12 | ||
rs4728142 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 12 | ||
rs7138803 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 12 | |||
rs10938397 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 11 | ||
rs174546 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 11 | ||
rs867593888 | 0.882 | 0.200 | 22 | 36292059 | missense variant | T/C | snv | 11 | |||
rs10224002 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 10 |