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 | 1.000 | 0.080 | 12 | 118455443 | intergenic variant | C/T | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 47624205 | missense variant | A/G | snv | 2.1E-03 | 8.3E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 207523640 | missense variant | A/G | snv | 1.6E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 3 | 153652877 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 7 | 143413669 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 10 | 91426505 | intron variant | T/A | snv | 0.21 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 9 | 83666280 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 11 | 121496917 | missense variant | T/A;C;G | snv | 0.49; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.160 | 10 | 58178575 | intergenic variant | A/G | snv | 4.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 18 | 25107186 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 11 | 1761421 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 2 | 127050470 | missense variant | T/C | snv | 9.2E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 11 | 78225120 | synonymous variant | A/G | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 15 | 101646763 | missense variant | G/A | snv | 2.9E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 8 | 27608798 | non coding transcript exon variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 11 | 60255614 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 |