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 | 0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
9 | 0.827 | 0.080 | 4 | 54285926 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.080 | 6 | 152102770 | 3 prime UTR variant | T/A;G | snv | 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 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.040 | 1.000 | 4 | 2011 | 2019 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.040 | 1.000 | 4 | 2011 | 2019 | |||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.160 | 7 | 55156637 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 7 | 6026819 | missense variant | T/C | snv | 9.0E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 7 | 140800366 | missense variant | T/C | snv | 8.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 10 | 102837224 | synonymous variant | G/A | snv | 0.42 | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
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 | |||
|
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 | ||||
|
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 |