Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs143046984 | 0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 | 9 | ||
rs779795819 | 0.925 | 0.080 | 3 | 37048526 | frameshift variant | -/ATTG | delins | 4.0E-06 | 2 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs202110856 | 0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 | 9 | ||
rs1205454520 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 10 | ||
rs377429877 | 0.776 | 0.080 | 13 | 33518027 | intron variant | -/TAA | delins | 6.0E-02 | 10 | ||
rs63750767 | 0.925 | 0.160 | 2 | 47806588 | stop gained | -/TCAAAAGGGACATAGAAAA | delins | 7.0E-06 | 4 | ||
rs869312768 | 0.925 | 0.160 | 2 | 47429865 | frameshift variant | -/TT | delins | 2 | |||
rs869312783 | 1.000 | 0.080 | 10 | 86892181 | frameshift variant | -/TTAG | delins | 2 | |||
rs712 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 24 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 18 | ||
rs6058093 | 0.776 | 0.080 | 20 | 34625392 | intron variant | A/C | snv | 0.55 | 12 | ||
rs1566734 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 10 | |
rs9924886 | 0.776 | 0.080 | 16 | 68710036 | intron variant | A/C | snv | 0.25 | 10 | ||
rs10911251 | 0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 | 9 | ||
rs16973225 | 0.790 | 0.080 | 15 | 81937658 | intron variant | A/C | snv | 7.4E-02 | 9 | ||
rs2184857 | 0.790 | 0.080 | 1 | 239918447 | upstream gene variant | A/C | snv | 0.45 | 9 | ||
rs6720296 | 0.790 | 0.080 | 2 | 45181130 | intron variant | A/C | snv | 0.52 | 9 | ||
rs73975588 | 0.790 | 0.080 | 17 | 913501 | intron variant | A/C | snv | 9.9E-02 | 9 | ||
rs719725 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 7 | ||
rs11721827 | 0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 | 4 | ||
rs121909242 | 0.925 | 0.080 | 3 | 12416825 | missense variant | A/C | snv | 2 | |||
rs4147536 | 0.925 | 0.080 | 4 | 99317955 | non coding transcript exon variant | A/C | snv | 0.71 | 2 | ||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs1131691021 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 21 |