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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.020 | 0.500 | 2 | 2005 | 2019 | |||
|
17 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
52 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.807 | 0.080 | 1 | 94055128 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.200 | MT | 13276 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 0.080 | 21 | 38445560 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 9 | 114235944 | intron variant | G/A | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.200 | 4 | 140572807 | upstream gene variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.030 | 0.333 | 3 | 2012 | 2013 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2012 | 2013 | |||
|
2 | 7 | 18389298 | intron variant | A/G | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.120 | 15 | 52282973 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.080 | 11 | 61955892 | missense variant | G/A | snv | 5.2E-04 | 3.3E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 |