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 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs3761548 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 42 | |||
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs6679677 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 26 | ||
rs2104286 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 25 | ||
rs6822844 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 20 | ||
rs4728142 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 18 | ||
rs2670660 | 0.708 | 0.400 | 17 | 5615686 | intron variant | A/G | snv | 0.41 | 15 | ||
rs10174238 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 14 | ||
rs2304256 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 13 | |
rs33996649 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 13 | |
rs10954213 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 11 | ||
rs11465804 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 10 | |
rs9275312 | 0.807 | 0.280 | 6 | 32697951 | intergenic variant | A/G | snv | 0.16 | 6 | ||
rs5000634 | 0.851 | 0.200 | 6 | 32695787 | intergenic variant | A/G | snv | 0.39 | 4 | ||
rs230534 | 0.882 | 0.120 | 4 | 102527884 | intron variant | T/C | snv | 0.73 | 3 | ||
rs7820268 | 0.925 | 0.080 | 8 | 39920010 | intron variant | C/T | snv | 0.28 | 2 |