Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.870 | 1.000 | 10 | 2011 | 2019 | ||||
|
10 | 0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 | 0.850 | 1.000 | 9 | 2011 | 2019 | ||||
|
5 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 0.880 | 1.000 | 9 | 2011 | 2020 | |||||
|
5 | 0.882 | 0.040 | 8 | 97154685 | intergenic variant | T/C | snv | 0.75 | 0.860 | 1.000 | 6 | 2010 | 2018 | ||||
|
4 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 0.830 | 0.800 | 5 | 2013 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2003 | 2018 | |||||
|
3 | 0.925 | 0.040 | 7 | 40426601 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 4 | 2013 | 2019 | ||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 4 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 39215694 | intron variant | C/T | snv | 0.20 | 0.800 | 1.000 | 3 | 2013 | 2016 | ||||
|
3 | 0.925 | 0.040 | 8 | 88535703 | intron variant | C/T | snv | 0.23 | 0.720 | 0.667 | 3 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 4122946 | intergenic variant | A/G | snv | 0.29 | 0.820 | 0.667 | 3 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 115134562 | regulatory region variant | T/C | snv | 0.14 | 0.720 | 1.000 | 3 | 2013 | 2018 | ||||
|
3 | 0.925 | 0.040 | 9 | 116490350 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2016 | |||||
|
8 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2001 | 2011 | |||||
|
3 | 14 | 93129246 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
1 | 6 | 96412478 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||
|
1 | 1 | 156486509 | intron variant | -/T | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
6 | 0.827 | 0.200 | 11 | 27702228 | intron variant | T/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 153491449 | intron variant | G/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 10 | 33179196 | 3 prime UTR variant | A/G | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 1 | 156486509 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
2 | 11 | 10652497 | intron variant | C/G | snv | 0.78 | 0.700 | 1.000 | 2 | 2016 | 2016 |