Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2172362 | 0.925 | 0.080 | 1 | 39829228 | intergenic variant | T/C | snv | 0.58 | 3 | ||
rs230310 | 0.925 | 0.080 | 1 | 39842047 | intron variant | A/G;T | snv | 3 | |||
rs2689154 | 0.882 | 0.080 | 1 | 238745053 | intergenic variant | C/A;G;T | snv | 3 | |||
rs2990245 | 0.827 | 0.240 | 1 | 155227671 | upstream gene variant | C/G;T | snv | 3 | |||
rs3738708 | 0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 | 3 | ||
rs4460629 | 0.882 | 0.080 | 1 | 155162859 | intergenic variant | T/C | snv | 0.56 | 3 | ||
rs112754928 | 0.925 | 0.080 | 1 | 31815123 | missense variant | G/A;T | snv | 4.5E-03; 1.2E-05 | 2 | ||
rs1801159 | 0.925 | 0.080 | 1 | 97515839 | missense variant | T/C | snv | 0.20 | 0.18 | 2 | |
rs3134613 | 0.925 | 0.080 | 1 | 39899131 | intron variant | C/A | snv | 0.59 | 2 | ||
rs34160967 | 0.925 | 0.080 | 1 | 6575246 | missense variant | G/A;C | snv | 0.13; 4.0E-06 | 2 | ||
rs3737589 | 0.925 | 0.080 | 1 | 3746281 | splice region variant | A/G | snv | 0.38 | 2 | ||
rs5278 | 0.925 | 0.080 | 1 | 186676537 | synonymous variant | A/G | snv | 4.8E-03 | 1.8E-02 | 2 | |
rs5279 | 0.925 | 0.080 | 1 | 186675946 | missense variant | A/C;G;T | snv | 4.0E-06; 4.5E-03; 8.0E-06 | 2 | ||
rs7515164 | 0.925 | 0.080 | 1 | 3738183 | non coding transcript exon variant | C/A | snv | 0.15 | 2 | ||
rs7536272 | 0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 | 2 | ||
rs758900778 | 0.925 | 0.080 | 1 | 45333489 | missense variant | G/C | snv | 4.0E-06 | 2 | ||
rs79777494 | 0.882 | 0.120 | 1 | 45334495 | missense variant | G/A | snv | 1.1E-03 | 4.9E-04 | 2 | |
rs9426886 | 0.851 | 0.200 | 1 | 155179278 | intron variant | A/T | snv | 0.40 | 2 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 91 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 45 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 36 |