Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3813946 | 0.827 | 0.280 | 1 | 207454348 | 5 prime UTR variant | T/C | snv | 0.16 | 5 | ||
rs1150754 | 0.851 | 0.200 | 6 | 32082981 | intron variant | C/A;T | snv | 4 | |||
rs1206255976 | 0.851 | 0.160 | 1 | 22637618 | start lost | T/G | snv | 7.0E-06 | 4 | ||
rs13023380 | 0.851 | 0.160 | 2 | 162297853 | intron variant | G/A | snv | 0.35 | 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 | ||
rs1616583 | 0.882 | 0.120 | X | 12891363 | downstream gene variant | C/G | snv | 0.24 | 3 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1048971 | 0.851 | 0.160 | 1 | 207472977 | synonymous variant | G/A;T | snv | 0.34; 8.0E-06 | 4 | ||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs370504038 | 0.851 | 0.160 | 3 | 48467569 | missense variant | A/G | snv | 1.2E-04 | 1.2E-04 | 4 | |
rs72556554 | 0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 | 9 | ||
rs3131379 | 0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 | 10 | |
rs2397084 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 14 | |
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs1143679 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 14 | |
rs1050501 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 15 | |
rs17615 | 0.827 | 0.200 | 1 | 207473117 | missense variant | G/A | snv | 0.26 | 0.31 | 5 | |
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 12 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 |