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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 10 | 86654812 | missense variant | C/T | snv | 0.10 | 0.10 | 0.020 | 1.000 | 2 | 2009 | 2018 | |||
|
1 | 1.000 | 0.040 | 10 | 86662359 | missense variant | C/T | snv | 0.70 | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.120 | 11 | 45848626 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 2 | 100977729 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.790 | 0.200 | 17 | 30211514 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 15 | 60549076 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.080 | X | 151177387 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.120 | 17 | 40096959 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 9 | 86078545 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 13 | 46877903 | intron variant | A/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |