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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2019 | |||||
|
2 | 11 | 47325172 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 11 | 72721940 | 5 prime UTR variant | G/A | snv | 0.12 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||
|
2 | 13 | 27913462 | intron variant | A/G | snv | 0.23 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 3 | 123363551 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 20 | 22587304 | upstream gene variant | C/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2010 | 2019 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 2 | 168898336 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
3 | 2 | 26930006 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.080 | 7 | 14858657 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
6 | 0.925 | 0.160 | 20 | 41203988 | missense variant | T/C | snv | 0.14 | 0.14 | 0.800 | 1.000 | 2 | 2012 | 2015 | |||
|
2 | 1.000 | 0.080 | 7 | 15025842 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 92958366 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2019 | |||||
|
2 | 7 | 44149675 | intron variant | T/C | snv | 0.18 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
4 | 3 | 123375604 | intron variant | T/C | snv | 0.76 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 11 | 92935660 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
2 | 9 | 4290085 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
1 | 20 | 22600630 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
2 | 20 | 22576461 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
4 | 0.882 | 0.160 | 7 | 44184122 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
5 | 1.000 | 0.040 | 11 | 92956866 | intergenic variant | G/T | snv | 0.37 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
4 | 2 | 168944978 | intron variant | A/G;T | snv | 0.75 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 7 | 15024301 | intergenic variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 40304762 | intron variant | C/A;G | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 |