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 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs1050501 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 15 | |
rs1518111 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 9 | ||
rs2205960 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 9 | |||
rs292001 | 0.807 | 0.320 | 1 | 22638465 | intron variant | G/A | snv | 0.54 | 6 | ||
rs10489265 | 0.827 | 0.200 | 1 | 173266926 | regulatory region variant | A/C | snv | 0.21 | 5 | ||
rs12938 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 5 | ||
rs1518110 | 0.851 | 0.160 | 1 | 206771516 | intron variant | A/C;T | snv | 5 | |||
rs17615 | 0.827 | 0.200 | 1 | 207473117 | missense variant | G/A | snv | 0.26 | 0.31 | 5 | |
rs3813946 | 0.827 | 0.280 | 1 | 207454348 | 5 prime UTR variant | T/C | snv | 0.16 | 5 | ||
rs1048971 | 0.851 | 0.160 | 1 | 207472977 | synonymous variant | G/A;T | snv | 0.34; 8.0E-06 | 4 | ||
rs1206255976 | 0.851 | 0.160 | 1 | 22637618 | start lost | T/G | snv | 7.0E-06 | 4 | ||
rs1876453 | 0.851 | 0.160 | 1 | 207454573 | intron variant | G/A | snv | 8.4E-02 | 4 | ||
rs3093061 | 0.851 | 0.160 | 1 | 159715192 | upstream gene variant | T/C | snv | 4.8E-02 | 4 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs11889341 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 12 | ||
rs1980422 | 0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv | 9 | |||
rs13023380 | 0.851 | 0.160 | 2 | 162297853 | intron variant | G/A | snv | 0.35 | 4 | ||
rs121908117 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 17 | |||
rs72556554 | 0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 | 9 | ||
rs370504038 | 0.851 | 0.160 | 3 | 48467569 | missense variant | A/G | snv | 1.2E-04 | 1.2E-04 | 4 | |
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 |