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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.120 | 2 | 67075611 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.120 | 9 | 32867483 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 4 | 181371930 | intergenic variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 16 | 16081173 | intron variant | A/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 21 | 42281867 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.080 | 14 | 92083151 | missense variant | C/T | snv | 6.8E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 14 | 92081048 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
7 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 16 | 83591958 | intron variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 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 | 18 | 52420925 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 10 | 113850156 | missense variant | C/A;G | snv | 4.0E-06; 0.77 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 97221459 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 96096624 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 55161592 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.120 | 11 | 92245852 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | X | 71223973 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 1 | 34784797 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.080 | 1 | 34785018 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.080 | 1 | 34784887 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 1 | 228157761 | start lost | G/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 7 | 99930354 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 |