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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 12 | 5495458 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 19 | 44908729 | missense variant | G/A;C;T | snv | 6.3E-06; 6.3E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.080 | 6 | 41159841 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.120 | 17 | 63489010 | missense variant | G/A;T | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 21 | 37358422 | intron variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 22 | 23767531 | missense variant | G/A;T | snv | 1.5E-05; 1.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 6 | 151926017 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 6 | 56704357 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.160 | 19 | 44905894 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.120 | 17 | 63483037 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
4 | 0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.160 | 4 | 102872502 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 10 | 102231624 | missense variant | G/A;C;T | snv | 0.62; 8.3E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 14 | 73211867 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.080 | 12 | 5494466 | synonymous variant | G/A;T | snv | 0.49; 3.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 5 | 1411297 | synonymous variant | T/C | snv | 0.23 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.120 | 17 | 44350293 | missense variant | T/C | snv | 1.8E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.080 | 7 | 80672000 | missense variant | C/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.200 | 10 | 73160449 | missense variant | G/A | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 20 | 1979580 | 3 prime UTR variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 8 | 27610169 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 6 | 41182853 | intergenic variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.120 | 17 | 46010418 | intron variant | C/T | snv | 0.700 | 0 |