Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs748289455 | 1.000 | 0.080 | 10 | 73647532 | frameshift variant | -/A | ins | 1.4E-05 | 1 | ||
rs140226130 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 8 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs1202891821 | 1.000 | 0.080 | 7 | 150947849 | frameshift variant | -/TTGG | ins | 1 | |||
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs2980853 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 16 | ||
rs3745297 | 0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 | 10 | |
rs1273246817 | 0.882 | 0.080 | 1 | 237784169 | missense variant | A/C | snv | 3 | |||
rs1555896778 | 0.925 | 0.080 | 20 | 62473504 | missense variant | A/C | snv | 2 | |||
rs13191450 | 1.000 | 0.080 | 6 | 122070990 | intergenic variant | A/C | snv | 0.28 | 1 | ||
rs2860482 | 1.000 | 0.080 | 12 | 56712154 | downstream gene variant | A/C | snv | 0.80 | 1 | ||
rs35620480 | 1.000 | 0.080 | 8 | 11642399 | upstream gene variant | A/C | snv | 0.11 | 1 | ||
rs4951261 | 1.000 | 0.080 | 1 | 205748695 | intron variant | A/C | snv | 0.34 | 1 | ||
rs8088085 | 1.000 | 0.080 | 18 | 51182178 | intron variant | A/C | snv | 0.36 | 1 | ||
rs220733 | 1.000 | 0.080 | 6 | 159897771 | intron variant | A/C;G | snv | 0.99 | 3 | ||
rs147301839 | 1.000 | 0.080 | 15 | 57632516 | missense variant | A/C;G | snv | 3.5E-03; 1.2E-05 | 1 | ||
rs210632 | 1.000 | 0.080 | 6 | 117559179 | intron variant | A/C;G | snv | 1 | |||
rs520525 | 1.000 | 0.080 | 1 | 170669192 | non coding transcript exon variant | A/C;G | snv | 1 | |||
rs6994744 | 1.000 | 0.080 | 8 | 140730769 | intron variant | A/C;G | snv | 1 | |||
rs1046934 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 4 | ||
rs1152591 | 1.000 | 0.080 | 14 | 64214130 | intron variant | A/C;G;T | snv | 1 | |||
rs1997572 | 1.000 | 0.080 | 7 | 116558774 | intron variant | A/C;G;T | snv | 1 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs762624 | 0.851 | 0.280 | 6 | 36677811 | non coding transcript exon variant | A/C;T | snv | 0.37; 2.4E-05 | 4 | ||
rs12992412 | 1.000 | 0.080 | 2 | 148035096 | intron variant | A/C;T | snv | 1 |