Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs3771829 | 0.790 | 0.120 | 2 | 75137019 | intron variant | C/G | snv | 0.11 | 9 | ||
rs3771856 | 0.882 | 0.080 | 2 | 75186888 | non coding transcript exon variant | G/A | snv | 0.57 | 3 | ||
rs2727943 | 0.925 | 0.080 | 3 | 1856289 | intergenic variant | T/A;C | snv | 2 | |||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs10051667 | 0.925 | 0.080 | 5 | 161471322 | intron variant | T/C | snv | 0.12 | 2 | ||
rs967771 | 0.925 | 0.080 | 5 | 161335167 | intron variant | C/T | snv | 0.16 | 2 | ||
rs1039002 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 5 | |||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs324650 | 0.827 | 0.080 | 7 | 137008914 | intron variant | T/A | snv | 0.55 | 5 | ||
rs1611115 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 16 | ||
rs1176744 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 19 | |
rs1801028 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 24 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1034936 | 0.882 | 0.080 | 12 | 2551994 | intron variant | C/T | snv | 0.61 | 3 | ||
rs1805247 | 0.925 | 0.080 | 12 | 13563041 | synonymous variant | A/G | snv | 0.13 | 0.17 | 2 | |
rs1805502 | 0.790 | 0.200 | 12 | 13561247 | 3 prime UTR variant | A/G | snv | 0.25 | 7 | ||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs12898460 | 0.882 | 0.080 | 15 | 38694612 | intron variant | C/T | snv | 0.23 | 3 | ||
rs12912251 | 0.882 | 0.080 | 15 | 38694167 | intron variant | G/T | snv | 0.25 | 3 | ||
rs1701137 | 0.882 | 0.080 | 17 | 572682 | intron variant | C/T | snv | 0.50 | 3 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 |