Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10502001 | 1.000 | 0.040 | 11 | 102527862 | missense variant | C/G;T | snv | 0.19 | 1 | ||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs522616 | 0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 | 10 | ||
rs11466668 | 1.000 | 0.040 | 1 | 1207346 | upstream gene variant | G/T | snv | 5.7E-03 | 1 | ||
rs3753348 | 0.925 | 0.080 | 1 | 1208277 | upstream gene variant | C/G;T | snv | 2 | |||
rs2672794 | 1.000 | 0.040 | 11 | 1219775 | intron variant | T/C | snv | 0.70 | 2 | ||
rs767830104 | 0.752 | 0.280 | 2 | 136115399 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 13 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs3748076 | 1.000 | 0.040 | 6 | 143757963 | intron variant | G/A | snv | 0.56 | 1 | ||
rs2290846 | 1.000 | 0.040 | 4 | 150277928 | missense variant | G/A | snv | 0.20 | 0.18 | 3 | |
rs1059829 | 1.000 | 0.040 | 5 | 151662468 | 3 prime UTR variant | G/A | snv | 0.45 | 1 | ||
rs1059279 | 1.000 | 0.040 | 5 | 151662618 | 3 prime UTR variant | A/C;T | snv | 0.14 | 1 | ||
rs1053411 | 1.000 | 0.040 | 5 | 151663542 | 3 prime UTR variant | G/C;T | snv | 0.21; 4.0E-06 | 1 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs5368 | 0.882 | 0.160 | 1 | 169727805 | missense variant | G/A | snv | 0.14 | 0.11 | 4 | |
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs689466 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 33 | ||
rs2067051 | 0.882 | 0.120 | 11 | 1996938 | non coding transcript exon variant | C/A;T | snv | 7.0E-06; 0.41 | 3 | ||
rs2540438 | 1.000 | 0.040 | 2 | 201485833 | downstream gene variant | C/A | snv | 0.29 | 1 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs1539019 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 6 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs766662990 | 0.851 | 0.120 | 17 | 35878529 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 4 | |
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 48 | |
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 |