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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.080 | 11 | 45851540 | intron variant | A/C | snv | 0.39 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
7 | 0.851 | 0.200 | 9 | 4293150 | intron variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 9 | 93420421 | downstream gene variant | A/C | snv | 6.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 1.000 | 0.080 | 11 | 72722053 | 5 prime UTR variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 11 | 45882062 | 3 prime UTR variant | A/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 2 | 27772914 | intron variant | A/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 21 | 40567642 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 18958319 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 7 | 44205764 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 9 | 4292152 | intron variant | A/C;G | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.120 | 15 | 98715481 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
9 | 0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
14 | 8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||
|
2 | 13 | 27913462 | intron variant | A/G | snv | 0.23 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
2 | 11 | 8222251 | downstream gene variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 15 | 62141763 | regulatory region variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 14 | 62662722 | regulatory region variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 17 | 21169976 | intron variant | A/G | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 111217250 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 166334297 | intergenic variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
8 | 0.882 | 0.120 | 2 | 27578892 | missense variant | A/G | snv | 0.30 | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 6 | 142190999 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 1.000 | 0.040 | 2 | 27891044 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 |