| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 8 | 31043374 | intron variant | A/G | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 1 | 147909431 | downstream gene variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 158767096 | intron variant | A/G | snv | 0.62 | 0.67 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 8 | 11787242 | 3 prime UTR variant | A/G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 16 | 27310774 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.732 | 0.280 | 3 | 9756456 | intron variant | C/G | snv | 0.28 | 0.24 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.120 | 8 | 31075099 | intron variant | C/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.120 | 15 | 90811275 | synonymous variant | C/T | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 14 | 103672302 | intron variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.240 | 16 | 27312083 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 21 | 43168313 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 14 | 103639077 | intron variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 12 | 56454295 | missense variant | C/T | snv | 2.4E-02 | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 1 | 147903855 | upstream gene variant | C/T | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 158766846 | 3 prime UTR variant | CA/- | delins | 0.41 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 9 | 97405289 | intron variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 5 | 107670512 | synonymous variant | G/A | snv | 1.7E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 5 | 107381274 | missense variant | G/A | snv | 4.6E-04 | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 19 | 51964569 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 3 | 9759396 | non coding transcript exon variant | G/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |