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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.850 | 1.000 | 7 | 2008 | 2017 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.830 | 1.000 | 8 | 2008 | 2017 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.820 | 1.000 | 7 | 2008 | 2017 | |||||||
|
0.925 | 0.040 | 3 | 49682296 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.720 | 1.000 | 4 | 2011 | 2013 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 4 | 2011 | 2017 | |||||||
|
3 | 49684365 | synonymous variant | C/A | snv | 0.27 | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 49673046 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 49672480 | upstream gene variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.040 | 3 | 49682296 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.080 | 3 | 49673881 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 3 | 49673881 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 3 | 49673881 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 3 | 49673881 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |