Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 22731420 | missense variant | T/A;C | snv | 2.9E-02; 4.2E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 7 | 22728505 | non coding transcript exon variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 22725718 | non coding transcript exon variant | -/CC | delins | 6.7E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 7 | 22725718 | non coding transcript exon variant | -/CC | delins | 6.7E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 7 | 22725837 | non coding transcript exon variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 7 | 22730375 | intron variant | G/A | snv | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 22731416 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 7 | 22729088 | intron variant | T/A;G | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 7 | 22729088 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 7 | 22732035 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 7 | 22732035 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.160 | 7 | 22728782 | synonymous variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 7 | 22728782 | synonymous variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 7 | 22728782 | synonymous variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 7 | 22728289 | intron variant | C/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 7 | 22728289 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 7 | 22728289 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 7 | 22728289 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 7 | 22731537 | missense variant | C/G;T | snv | 4.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 7 | 22731537 | missense variant | C/G;T | snv | 4.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 7 | 22731537 | missense variant | C/G;T | snv | 4.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.200 | 7 | 22727814 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.200 | 7 | 22727814 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.200 | 7 | 22727814 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.200 | 7 | 22727814 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |