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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | X | 97839482 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.827 | 0.120 | 21 | 31663841 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
7 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
6 | 0.851 | 0.120 | 21 | 31659806 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.851 | 0.080 | 21 | 31667296 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
13 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.080 | 19 | 56027610 | missense variant | G/C | snv | 0.13 | 9.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.120 | 19 | 6495754 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 1.000 | 17 | 3572196 | synonymous variant | C/T | snv | 4.6E-02 | 7.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 16 | 1218376 | missense variant | G/A;T | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 16 | 82081670 | intron variant | T/A | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
12 | 0.742 | 0.360 | 14 | 24510132 | upstream gene variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 14 | 24510007 | upstream gene variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
20 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 11 | 47268596 | missense variant | G/A | snv | 2.2E-04 | 2.6E-04 | 0.020 | 1.000 | 2 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 10 | 102837224 | synonymous variant | G/A | snv | 0.42 | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 1.000 | 11 | 2009 | 2019 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2006 | 2018 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.050 | 1.000 | 5 | 2006 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.040 | 1.000 | 4 | 2011 | 2019 |