Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4725366 | 1.000 | 0.080 | 7 | 150824966 | splice region variant | A/G | snv | 0.81 | 2 | ||
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 | ||
rs2266788 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 19 | ||
rs1367117 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 8 | |
rs679899 | 0.925 | 0.080 | 2 | 21028042 | missense variant | G/A | snv | 0.49 | 0.39 | 7 | |
rs405509 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 30 | ||
rs142480126 | 19 | 44907825 | missense variant | G/A | snv | 8.0E-06 | 1 | ||||
rs73885319 | 0.851 | 0.120 | 22 | 36265860 | missense variant | A/G | snv | 1.6E-02 | 6.6E-02 | 6 | |
rs60910145 | 0.851 | 0.120 | 22 | 36265988 | missense variant | T/G | snv | 1.6E-02 | 6.6E-02 | 5 | |
rs752977102 | 0.925 | 0.120 | 16 | 88811577 | missense variant | G/C | snv | 2.8E-05 | 7.0E-05 | 3 | |
rs2276415 | 0.882 | 0.160 | 11 | 77590296 | missense variant | G/A | snv | 0.14 | 0.13 | 6 | |
rs2282377 | 1.000 | 0.080 | 14 | 104105483 | intron variant | C/G | snv | 0.12 | 0.12 | 2 | |
rs188780113 | 11 | 64911072 | missense variant | G/A | snv | 5.7E-04 | 1.5E-04 | 1 | |||
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 41 | ||
rs9895661 | 0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 | 10 | ||
rs3782886 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 22 | |
rs6929846 | 0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 | 10 | ||
rs200340021 | 0.925 | 0.080 | 12 | 14882204 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs78351985 | 4 | 99655532 | upstream gene variant | A/G | snv | 3.2E-04 | 1 | ||||
rs1500896 | 8 | 95474454 | intron variant | G/A;C | snv | 1 | |||||
rs4730751 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 4 | ||
rs7784820 | 7 | 80420717 | intron variant | A/G | snv | 0.16 | 1 | ||||
rs11078903 | 17 | 39475671 | intron variant | G/A;C;T | snv | 2 | |||||
rs7754840 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 9 | |||
rs201631095 | 1.000 | 0.080 | 19 | 8208084 | intron variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAA | delins | 2 |