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 | 0.882 | 0.040 | 13 | 105451011 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 4 | 163329645 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.807 | 0.120 | 13 | 105516850 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.040 | 13 | 105487313 | intron variant | T/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
2 | 1.000 | 0.040 | 13 | 105463160 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.040 | 13 | 105489886 | synonymous variant | C/A;T | snv | 0.27; 4.0E-06 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.090 | 1.000 | 9 | 2011 | 2015 | |||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.030 | 0.667 | 3 | 2012 | 2019 | |||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
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 | |||
|
7 | 0.827 | 0.040 | 18 | 55084786 | intergenic variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 18 | 55527730 | intron variant | T/C | snv | 2.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.160 | 14 | 104766758 | intron variant | C/A;T | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.882 | 0.040 | 18 | 55481790 | intron variant | A/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 18 | 55083238 | intergenic variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 8 | 31749079 | intron variant | C/T | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.040 | 8 | 31637858 | upstream gene variant | G/A | snv | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 137156924 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 |