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 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs361525 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 62 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs1800797 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 43 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs6897932 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 25 | |
rs41423247 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 23 | ||
rs3761549 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 18 | ||
rs352139 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 18 | |
rs2232365 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 16 | |||
rs6198 | 0.724 | 0.480 | 5 | 143278056 | 3 prime UTR variant | T/C | snv | 0.12 | 16 | ||
rs1129055 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 15 | |
rs749140677 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 13 | ||
rs16910526 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 12 | ||
rs2069727 | 0.763 | 0.320 | 12 | 68154443 | intron variant | T/A;C | snv | 9 | |||
rs9277534 | 0.790 | 0.280 | 6 | 33087030 | 3 prime UTR variant | A/G | snv | 0.38 | 7 | ||
rs4693608 | 0.827 | 0.200 | 4 | 83320204 | intron variant | G/A;C | snv | 6 | |||
rs6195 | 0.807 | 0.120 | 5 | 143399752 | missense variant | T/A;C | snv | 6 | |||
rs37972 | 0.851 | 0.160 | 7 | 7967878 | 3 prime UTR variant | T/A;C | snv | 5 |