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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 16 | 75408246 | intron variant | -/GC | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 73443388 | intron variant | G/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 40378133 | intron variant | G/- | del | 0.81 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
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 | |||||||
|
1 | 12 | 4419506 | intergenic variant | C/- | delins | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 172505416 | downstream gene variant | -/GAGT | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 1 | 12166729 | upstream gene variant | GCCGGGCAGGTGGAG/-;GCCGGGCAGGTGGAGGCCGGGCAGGTGGAG | delins | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.968 | 31 | 2000 | 2019 | |||
|
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 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.060 | 0.667 | 6 | 2006 | 2019 | |||
|
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 | 1 | 156476450 | intron variant | C/A | snv | 0.62 | 0.54 | 0.820 | 0.500 | 4 | 2012 | 2017 | |||
|
3 | 0.925 | 0.040 | 7 | 40426601 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 4 | 2013 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 0.750 | 4 | 2008 | 2017 | |||
|
7 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 0.040 | 0.750 | 4 | 2012 | 2015 | |||
|
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 |