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 | 10 | 100989789 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
15 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 1 | 119140608 | missense variant | A/C;G;T | snv | 3.2E-03; 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
2 | MT | 14598 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 19 | 15180807 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.730 | 1.000 | 3 | 2016 | 2018 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.700 | 0 | ||||||
|
3 | 6 | 162262647 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 3 | 184327376 | missense variant | C/T | snv | 4.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.080 | 3 | 184331303 | missense variant | G/A;T | snv | 6.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2007 | 2010 | |||||
|
3 | 1 | 20633841 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.040 | 1 | 20633925 | missense variant | A/C;G | snv | 5.3E-06; 3.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 20638074 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.040 | 1 | 20638104 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |