Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1012657750 | 1 | 151368294 | missense variant | G/C | snv | 2 | |||||
rs1249051329 | 1 | 151369834 | synonymous variant | T/C | snv | 3.5E-05 | 2 | ||||
rs3813627 | 1.000 | 0.080 | 1 | 161225358 | upstream gene variant | G/T | snv | 0.28 | 2 | ||
rs771038258 | 1 | 151365837 | missense variant | A/G | snv | 8.0E-06 | 2.1E-05 | 2 | |||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs693 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 24 | |
rs2241883 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 14 | |
rs1260333 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 12 | ||
rs1042031 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 11 | ||
rs7566605 | 0.752 | 0.320 | 2 | 118078449 | regulatory region variant | C/G | snv | 0.70 | 11 | ||
rs780092 | 0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 | 10 | ||
rs3755166 | 1.000 | 0.080 | 2 | 169363371 | upstream gene variant | A/C;G | snv | 4 | |||
rs512535 | 0.925 | 0.080 | 2 | 21044910 | upstream gene variant | T/C | snv | 0.45 | 3 | ||
rs1801701 | 1.000 | 0.080 | 2 | 21005955 | missense variant | C/T | snv | 7.0E-02 | 6.6E-02 | 2 | |
rs2229268 | 2 | 169168573 | synonymous variant | A/G | snv | 0.20 | 0.16 | 1 | |||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs1801725 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 39 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs7652589 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 13 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs4580704 | 0.790 | 0.200 | 4 | 55460540 | intron variant | G/C | snv | 0.69 | 13 |