Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1625579 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 5 | ||
rs10513025 | 1.000 | 0.040 | 5 | 9623510 | non coding transcript exon variant | T/C | snv | 5.4E-02 | 1 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 3 | ||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 4 | |
rs841361 | 1.000 | 0.040 | 1 | 94686257 | intron variant | C/T | snv | 0.48 | 1 | ||
rs1555453538 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 7 | |||
rs113994098 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 10 | |
rs1567574466 | 1.000 | 0.040 | 16 | 89283404 | stop gained | A/T | snv | 1 | |||
rs519700 | 1.000 | 0.040 | 13 | 88512065 | intron variant | T/A;C | snv | 1 | |||
rs1064793345 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 10 | |||
rs876660634 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 10 | |||
rs4150167 | 1.000 | 0.040 | 16 | 84180078 | missense variant | C/T | snv | 1.9E-02 | 1.5E-02 | 1 | |
rs17007739 | 1.000 | 0.040 | 4 | 83920097 | intron variant | T/G | snv | 0.38 | 1 | ||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs1562171209 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 9 | |||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs1562127631 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 24 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs351871 | 1.000 | 0.040 | 5 | 77680214 | regulatory region variant | A/G;T | snv | 1 | |||
rs4761371 | 1.000 | 0.040 | 12 | 77355769 | intron variant | C/T | snv | 0.36 | 1 | ||
rs786205133 | 0.882 | 0.120 | X | 74592248 | missense variant | T/C | snv | 4 | |||
rs397514627 | 0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv | 4 | |||
rs9302952 | 1.000 | 0.040 | 17 | 73068087 | non coding transcript exon variant | A/C | snv | 0.14 | 1 | ||
rs7834018 | 1.000 | 0.040 | 8 | 71649507 | intergenic variant | C/T | snv | 0.83 | 1 |