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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 17 | 61784427 | splice region variant | A/C;G | snv | 4.0E-06; 2.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 17 | 39706998 | missense variant | G/A;C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 18 | 55606383 | intron variant | G/A | snv | 0.94 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 7 | 152638744 | intergenic variant | A/G | snv | 0.94 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 19 | 17266803 | intron variant | C/G | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 9151723 | non coding transcript exon variant | C/T | snv | 1.2E-04 | 4.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 1 | 226408378 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 11 | 35229231 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 136115346 | missense variant | C/G | snv | 2.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 43063911 | synonymous variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 7 | 55205301 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 2 | 52252219 | intron variant | A/T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 6 | 161785829 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 9.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 19 | 10146569 | intron variant | G/A | snv | 0.36 | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.120 | 7 | 116677823 | intron variant | G/A | snv | 0.87 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 19 | 17282085 | missense variant | G/A | snv | 0.47 | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.807 | 0.120 | 17 | 43045257 | 3 prime UTR variant | C/A | snv | 0.34 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.807 | 0.120 | 6 | 149287738 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 | 0.020 | 1.000 | 2 | 2010 | 2019 | |||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
5 | 0.827 | 0.160 | 19 | 45357368 | missense variant | G/C | snv | 1.2E-03 | 4.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.160 | 3 | 14158639 | missense variant | C/T | snv | 1.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.807 | 0.160 | 10 | 87952250 | stop gained | G/A;T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 0.020 | 1.000 | 2 | 2015 | 2020 |