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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.080 | 1.000 | 8 | 2006 | 2013 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.080 | 0.750 | 8 | 2005 | 2016 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
7 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2017 | 2019 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2017 | |||||
|
4 | 0.851 | 0.080 | 12 | 5494466 | synonymous variant | G/A;T | snv | 0.49; 3.2E-05 | 0.030 | 0.667 | 3 | 2008 | 2014 | ||||
|
3 | 0.925 | 0.040 | 9 | 90646879 | upstream gene variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
2 | 0.925 | 0.040 | 5 | 43054645 | intron variant | A/G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
3 | 0.925 | 0.040 | 1 | 96513405 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.810 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 1.000 | 0.040 | 5 | 1412530 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
6 | 0.827 | 0.080 | 16 | 55652906 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
4 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 20 | 10307094 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.040 | 13 | 108163877 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 16 | 84412778 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 10 | 52014152 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 52019720 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 16 | 10539308 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 17 | 8770824 | intergenic variant | TTT/-;TT;TTTT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 |