Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3733197 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 13 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs34536443 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 25 | |
rs3087456 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 14 | ||
rs12708716 | 0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 | 7 | ||
rs12917716 | 0.851 | 0.200 | 16 | 11095291 | intron variant | G/C | snv | 0.51 | 4 | ||
rs2903692 | 0.807 | 0.360 | 16 | 11144926 | intron variant | G/A | snv | 0.33 | 6 | ||
rs6498169 | 0.807 | 0.280 | 16 | 11155472 | non coding transcript exon variant | G/A | snv | 0.66 | 6 | ||
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs6679677 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 26 | ||
rs3789604 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 9 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs2488457 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 11 | |||
rs12566340 | 0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv | 3 | |||
rs2736340 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 22 | ||
rs13277113 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 18 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4505848 | 0.776 | 0.400 | 4 | 122211337 | intron variant | A/G | snv | 0.29 | 8 | ||
rs17388568 | 0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 | 6 | ||
rs2069763 | 0.807 | 0.320 | 4 | 122456327 | synonymous variant | C/A | snv | 0.36 | 0.29 | 6 |