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 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 7 | 99930354 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 150757317 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 97221459 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 170543473 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 18 | 52420925 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 7 | 93719703 | intron variant | C/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 16 | 16081173 | intron variant | A/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.120 | 9 | 32867483 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 21 | 42281867 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 1.000 | 0.120 | 8 | 95011854 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 16 | 83591958 | intron variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 96096624 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 5 | 79890115 | intergenic variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.120 | 11 | 92245852 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.120 | 2 | 67075611 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 4 | 181371930 | intergenic variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.120 | 11 | 85654139 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 1.000 | 20 | 4699698 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
6 | 0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.080 | 12 | 119187078 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
9 | 0.827 | 0.120 | 17 | 15231047 | missense variant | G/A | snv | 4.0E-03 | 3.7E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
6 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 |