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 | 0.080 | 14 | 35403720 | synonymous variant | G/A | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 22 | 19623159 | regulatory region variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 63258928 | intron variant | A/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 63895621 | missense variant | C/A;T | snv | 1.0E-05; 1.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 94579038 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 94566450 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 35402888 | intron variant | C/T | snv | 0.14 | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 4 | 184238281 | intergenic variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 184238385 | intergenic variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 63872725 | missense variant | C/G;T | snv | 4.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 127467764 | missense variant | A/G | snv | 8.2E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 63268814 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 22 | 19622420 | regulatory region variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 11 | 77590296 | missense variant | G/A | snv | 0.14 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.160 | 9 | 133456116 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.851 | 0.200 | 11 | 64591825 | missense variant | G/A | snv | 1.8E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.200 | 11 | 64598561 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.200 | 4 | 9980627 | missense variant | C/T | snv | 6.1E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.200 | 4 | 9920389 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 0.030 | 1.000 | 3 | 2006 | 2011 | ||||
|
17 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.790 | 0.280 | 8 | 27500988 | missense variant | A/G | snv | 8.7E-02 | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
12 | 0.732 | 0.440 | 14 | 35405593 | upstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
22 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 |