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 | 11 | 121564878 | intron variant | T/A;C | snv | 0.830 | 1.000 | 8 | 2013 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 121575231 | intron variant | A/G | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 121558698 | missense variant | A/G | snv | 4.0E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 121589385 | missense variant | A/G | snv | 6.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 | 0.050 | 1.000 | 5 | 2009 | 2016 | |||
|
3 | 0.882 | 0.080 | 11 | 121612692 | non coding transcript exon variant | C/T | snv | 0.55 | 0.55 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||
|
1 | 1.000 | 0.080 | 11 | 121608249 | non coding transcript exon variant | C/T | snv | 0.27 | 0.040 | 1.000 | 4 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.080 | 11 | 121605213 | synonymous variant | T/A | snv | 0.39 | 0.29 | 0.040 | 1.000 | 4 | 2009 | 2016 | |||
|
3 | 0.882 | 0.080 | 11 | 121510256 | intron variant | G/A | snv | 0.38 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 121497212 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2009 | 2016 | |||||
|
3 | 0.882 | 0.120 | 11 | 121631046 | 3 prime UTR variant | G/A | snv | 0.55 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
3 | 0.882 | 0.080 | 11 | 121586253 | missense variant | C/G;T | snv | 3.2E-05; 0.53 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
7 | 0.790 | 0.120 | 11 | 121522975 | missense variant | G/A;T | snv | 7.2E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 121500411 | intron variant | G/A | snv | 0.40 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 1.000 | 0.080 | 11 | 121522517 | intron variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 11 | 121618707 | intron variant | G/A | snv | 0.84 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 121588112 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 11 | 121491607 | intron variant | G/A | snv | 3.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |