Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs10911021 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 11 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs142648132 | 0.827 | 0.160 | 1 | 236816521 | missense variant | G/A;C;T | snv | 8.4E-04; 2.4E-05 | 5 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs2794521 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 15 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs5082 | 0.807 | 0.160 | 1 | 161223893 | upstream gene variant | G/A | snv | 0.68 | 8 | ||
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 27 | |||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs2943641 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 18 | ||
rs7578597 | 0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 | 7 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs12495941 | 0.851 | 0.280 | 3 | 186850391 | intron variant | G/T | snv | 0.35 | 5 | ||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs17366568 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 6 | ||
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 | |||
rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 19 |