Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10139403 | 1.000 | 0.040 | 14 | 100728224 | intron variant | A/G | snv | 0.62 | 1 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs290487 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 10 | ||
rs4436578 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 4 | ||
rs518147 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 7 | |||
rs12836771 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 4 | ||
rs13266634 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 23 | ||
rs13412852 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 4 | ||
rs1057524908 | 0.925 | 0.080 | 12 | 120993686 | frameshift variant | -/C | delins | 2 | |||
rs137853238 | 0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv | 6 | |||
rs137853240 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 8 | ||
rs1565886545 | 0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv | 2 | |||
rs776793516 | 0.925 | 0.080 | 12 | 120997492 | frameshift variant | CA/- | delins | 4.0E-06 | 2 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs121909244 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
rs7799039 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 33 | |||
rs373269573 | 0.925 | 0.080 | 9 | 137711015 | missense variant | G/A | snv | 1.6E-04 | 9.1E-05 | 2 | |
rs764437500 | 0.925 | 0.080 | 9 | 137716697 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs56149945 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 49 | ||
rs587777042 | 0.882 | 0.040 | 8 | 144096615 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 |