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 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs112735431 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 24 | ||
rs9651118 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 20 | ||
rs2107595 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 15 | ||
rs387906592 | 0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv | 14 | |||
rs1535045 | 0.742 | 0.360 | 20 | 46119460 | intron variant | C/A;G;T | snv | 12 | |||
rs4759277 | 0.752 | 0.160 | 12 | 57139907 | intron variant | C/A | snv | 0.38 | 12 | ||
rs766734961 | 0.851 | 0.160 | 10 | 88939548 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs4813003 | 0.882 | 0.160 | 20 | 46134645 | downstream gene variant | C/A;T | snv | 0.19 | 3 | ||
rs9614159 | 0.882 | 0.160 | 22 | 30205254 | intron variant | G/A | snv | 0.30 | 3 | ||
rs3828610 | 0.882 | 0.160 | 5 | 150156062 | upstream gene variant | A/C | snv | 0.49 | 3 | ||
rs9916351 | 0.925 | 0.080 | 17 | 80265733 | intron variant | T/C | snv | 0.53 | 3 | ||
rs148731719 | 0.882 | 0.080 | 17 | 80376310 | missense variant | G/A | snv | 1.0E-02 | 7.9E-03 | 3 | |
rs3813803 | 0.925 | 0.080 | 1 | 27955781 | missense variant | T/C | snv | 0.25 | 0.23 | 3 | |
rs117353193 | 0.925 | 0.080 | 22 | 30614430 | missense variant | G/A | snv | 7.1E-04 | 3.1E-04 | 3 | |
rs199580307 | 0.882 | 0.160 | 18 | 3457498 | missense variant | T/C | snv | 2.6E-04 | 1.1E-04 | 3 | |
rs11273543 | 0.925 | 0.080 | 21 | 22419777 | intron variant | G/A | snv | 2 | |||
rs476382 | 0.925 | 0.080 | 18 | 22525019 | intergenic variant | T/A;C | snv | 2 |