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 | |||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs2808630 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 13 | ||
rs6330 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 12 | |
rs4845625 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 9 | ||
rs267734 | 0.925 | 0.120 | 1 | 150979001 | upstream gene variant | T/C | snv | 0.14 | 7 | ||
rs371237692 | 0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 | 5 | |
rs515299 | 0.925 | 0.080 | 1 | 196737547 | missense variant | G/A;C;T | snv | 4.8E-05; 1.7E-02 | 4 | ||
rs12124078 | 1 | 15543404 | intron variant | A/G | snv | 0.32 | 3 | ||||
rs1933182 | 1.000 | 0.080 | 1 | 109457216 | intergenic variant | A/C | snv | 0.63 | 3 | ||
rs770084716 | 1.000 | 1 | 243330591 | stop gained | C/G;T | snv | 4.0E-06 | 3 | |||
rs12134854 | 1.000 | 0.080 | 1 | 75671921 | intron variant | T/C | snv | 0.27 | 2 | ||
rs1464816 | 1.000 | 0.120 | 1 | 204159726 | intron variant | T/C;G | snv | 2 | |||
rs28415528 | 1.000 | 0.080 | 1 | 151907285 | intron variant | G/A | snv | 0.33 | 2 | ||
rs3093058 | 1 | 159715525 | upstream gene variant | T/A;C;G | snv | 2 | |||||
rs6587640 | 1.000 | 0.080 | 1 | 151982754 | downstream gene variant | C/T | snv | 0.37 | 2 | ||
rs6657658 | 1.000 | 0.080 | 1 | 151967388 | regulatory region variant | T/C | snv | 0.33 | 2 | ||
rs76963882 | 1.000 | 0.080 | 1 | 75702239 | intron variant | T/C | snv | 0.25 | 2 | ||
rs17384213 | 1 | 85418938 | intron variant | G/A | snv | 0.13 | 1 | ||||
rs6428106 | 1 | 192585301 | intron variant | G/T | snv | 0.14 | 1 | ||||
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 | ||
rs1047891 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 34 |