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 | 1 | 169522317 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||
|
2 | 4 | 186264231 | upstream gene variant | A/T | snv | 0.36 | 0.810 | 1.000 | 3 | 2011 | 2014 | ||||||
|
3 | 4 | 186277851 | intron variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2011 | 2019 | |||||||
|
3 | 1 | 169542517 | missense variant | T/C | snv | 0.28 | 0.24 | 0.710 | 1.000 | 3 | 2015 | 2019 | |||||
|
2 | 4 | 186266415 | intron variant | G/A | snv | 0.34 | 0.710 | 1.000 | 3 | 2010 | 2012 | ||||||
|
2 | 1 | 169544768 | intron variant | A/G | snv | 0.92 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169506814 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 169459706 | intron variant | C/T | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169454860 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169327626 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
3 | 16 | 81837364 | intron variant | C/T | snv | 9.6E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 169165889 | intron variant | A/C | snv | 5.5E-02 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169498416 | non coding transcript exon variant | G/A | snv | 0.98 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 4 | 154604543 | 3 prime UTR variant | G/A | snv | 0.26 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
1 | 1 | 169521154 | intron variant | G/C | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169528818 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 207108804 | intron variant | C/A;G | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 4 | 186264957 | upstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 4 | 186266940 | intron variant | T/G | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 8 | 105578478 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
8 | 9 | 133267960 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
10 | 9 | 133268030 | intron variant | G/A | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
9 | 9 | 133274306 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169511883 | downstream gene variant | T/A | snv | 0.91 | 0.700 | 1.000 | 2 | 2011 | 2012 |