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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 1 | 86486641 | missense variant | A/G | snv | 0.86 | 0.87 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.200 | 1 | 205945629 | upstream gene variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.160 | 1 | 94042767 | missense variant | G/A | snv | 1.2E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.200 | 1 | 205930467 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 1 | 94041346 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 203200743 | intergenic variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 203183673 | missense variant | T/C | snv | 0.45 | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 85668215 | missense variant | T/G | snv | 0.41 | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 2 | 85667185 | splice region variant | G/A;T | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 2 | 85658890 | 3 prime UTR variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 195802247 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 3 | 195758569 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 |