Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1143679 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 14 | |
rs12583006 | 0.807 | 0.320 | 13 | 108285104 | intron variant | T/A | snv | 0.21 | 8 | ||
rs1678542 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 9 | ||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs2104286 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 25 | ||
rs7848647 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 13 | ||
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 12 | |
rs2736340 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 22 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2004640 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 26 | ||
rs10488631 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 13 | ||
rs2070197 | 0.827 | 0.280 | 7 | 128948946 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 6 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
rs2397084 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 14 | |
rs1270942 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 11 | ||
rs3131379 | 0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 | 10 | |
rs1341239 | 0.776 | 0.360 | 6 | 22303975 | intron variant | A/C | snv | 0.65 | 8 | ||
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 | |
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 |