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 | 0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2007 | 2019 | |||||
|
8 | 0.776 | 0.160 | 6 | 38398097 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 10 | 26280826 | intron variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 4559892 | non coding transcript exon variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 3 | 184036872 | missense variant | C/G;T | snv | 6.4E-06; 2.7E-03 | 9.5E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.040 | 3 | 184100628 | missense variant | G/A;C | snv | 0.64; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 21 | 33027093 | synonymous variant | A/G | snv | 0.51 | 0.53 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.714 | 14 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 34876381 | intron variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 6 | 25590813 | intron variant | C/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2018 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 3 | 184056974 | missense variant | C/A;T | snv | 0.45; 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 34894477 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 21 | 33028471 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 3 | 184036506 | splice donor variant | G/A;C;T | snv | 0.46; 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.050 | 0.800 | 5 | 2003 | 2018 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.060 | 0.833 | 6 | 2007 | 2018 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.733 | 15 | 2006 | 2020 | |||
|
1 | 1.000 | 0.040 | 20 | 12015619 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 20 | 12014779 | intergenic variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 12018497 | intergenic variant | A/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 18022863 | synonymous variant | A/G | snv | 6.0E-03 | 6.4E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
2 | 0.925 | 0.120 | 3 | 87264203 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 |