Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554121671 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 4 | ||||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs1555103652 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 11 | |||
rs3813034 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 8 | ||
rs74315457 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 6 | |
rs2074898 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 3 | |||
rs28936379 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 10 | ||
rs4916723 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 4 | |||
rs2049161 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 2 | ||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs9296158 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 16 | ||
rs736707 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 6 | ||
rs1553510492 | 2 | 161419040 | missense variant | A/G | snv | 4 | |||||
rs279826 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 4 | ||
rs121964849 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 2 | |||
rs200754713 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 2 | ||||
rs1466835565 | 10 | 69368539 | missense variant | A/G | snv | 1 | |||||
rs754747375 | 10 | 69369252 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs2710102 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 12 | |||
rs2400707 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 3 | |||
rs3915512 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 3 | |||
rs279827 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 2 |