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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.923 | 13 | 2006 | 2019 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.090 | 1.000 | 9 | 2011 | 2015 | |||||
|
6 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 22 | 38067645 | non coding transcript exon variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 15620624 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.040 | 7 | 20828189 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | X | 123403426 | synonymous variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.120 | 13 | 105516850 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.040 | 20 | 35652946 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | X | 123239256 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |