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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 22731677 | 3 prime UTR variant | G/A | snv | 7.2E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 22731677 | 3 prime UTR variant | G/A | snv | 7.2E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 22731677 | 3 prime UTR variant | G/A | snv | 7.2E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
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 | |||||||||
|
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 | ||||||||
|
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 | ||||||||
|
0.925 | 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 | |||||||||
|
1.000 | 0.120 | 7 | 22728505 | non coding transcript exon variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
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 | |||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |