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 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 33 | |||
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 | ||
rs3219489 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 24 | |
rs12733285 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 12 | ||
rs1342387 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 12 | ||
rs3753584 | 0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 | 10 | ||
rs1061624 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 8 | ||
rs730881833 | 0.827 | 0.160 | 1 | 45332242 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 6 | ||
rs35352891 | 0.827 | 0.200 | 1 | 45331729 | missense variant | G/A | snv | 3.8E-04 | 1.1E-04 | 5 | |
rs10889675 | 1.000 | 0.080 | 1 | 67256533 | intron variant | C/A | snv | 0.11 | 2 | ||
rs7356 | 1.000 | 0.080 | 1 | 27891589 | 3 prime UTR variant | T/A;C | snv | 2 | |||
rs7542081 | 1.000 | 0.080 | 1 | 67237570 | intron variant | C/A | snv | 0.56 | 2 | ||
rs11247735 | 1.000 | 0.080 | 1 | 25804968 | intron variant | G/A;C | snv | 1 | |||
rs2072749 | 1.000 | 0.080 | 1 | 25804530 | intron variant | T/C | snv | 0.23 | 1 | ||
rs4659382 | 1.000 | 0.080 | 1 | 25808435 | intron variant | C/A;G | snv | 1 | |||
rs718391 | 1.000 | 0.080 | 1 | 25799343 | upstream gene variant | C/G | snv | 0.54 | 1 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs2228545 | 1.000 | 0.080 | 2 | 202555989 | missense variant | G/A | snv | 2.4E-02 | 2.2E-02 | 1 | |
rs5743030 | 1.000 | 0.080 | 2 | 189813819 | intron variant | G/A | snv | 0.11 | 1 | ||
rs5743100 | 1.000 | 0.080 | 2 | 189841127 | intron variant | G/T | snv | 9.2E-02 | 1 |