Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3751855 | 1.000 | 0.040 | 16 | 31079888 | synonymous variant | T/A;C | snv | 0.42 | 0.46 | 1 | |
rs9936170 | 1.000 | 0.040 | 16 | 87477955 | intron variant | A/C;G | snv | 1 | |||
rs11090045 | 1.000 | 0.040 | 22 | 41357599 | 3 prime UTR variant | G/A;C | snv | 2 | |||
rs34011394 | 1.000 | 0.040 | 22 | 41308868 | intron variant | C/T | snv | 0.38 | 1 | ||
rs34135146 | 1.000 | 0.040 | 3 | 52279416 | intron variant | G/C | snv | 9.3E-02 | 1 | ||
rs3988211 | 1.000 | 0.040 | 17 | 75850024 | intron variant | A/G | snv | 0.95 | 1 | ||
rs3740397 | 1.000 | 0.040 | 10 | 102832918 | 3 prime UTR variant | G/C | snv | 0.35 | 1 | ||
rs11191392 | 1.000 | 0.040 | 10 | 102767194 | intron variant | C/A | snv | 0.49 | 1 | ||
rs1555462347 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 34 | |||
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs353547 | 0.925 | 0.080 | 3 | 52234850 | intron variant | T/C | snv | 0.64 | 3 | ||
rs13282237 | 1.000 | 0.040 | 8 | 142244830 | intron variant | A/G | snv | 0.55 | 1 | ||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs4290270 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 17 | |
rs1843809 | 0.851 | 0.080 | 12 | 71954918 | intron variant | G/T | snv | 0.77 | 6 | ||
rs3093662 | 0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 | 9 | ||
rs12188167 | 1.000 | 0.040 | 5 | 88370488 | intron variant | C/G | snv | 0.15 | 1 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs1481318368 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 10 | |||
rs9836178 | 1.000 | 0.040 | 3 | 52891387 | intron variant | T/A;C | snv | 1 | |||
rs6445541 | 1.000 | 0.040 | 3 | 52846112 | intron variant | G/T | snv | 0.37 | 1 | ||
rs4434138 | 1.000 | 0.040 | 3 | 52522874 | missense variant | A/G | snv | 8.0E-06; 0.44 | 0.39 | 2 | |
rs3740688 | 0.925 | 0.120 | 11 | 47358789 | missense variant | G/A;T | snv | 0.59 | 2 | ||
rs10769256 | 1.000 | 0.040 | 11 | 47356845 | intron variant | C/G;T | snv | 1 | |||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 |