| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.830 | 1.000 | 1 | 2009 | 2017 | |||||||||
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 173250332 | intergenic variant | G/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 8147464 | intron variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 7 | 129028456 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2008 | 2014 | |||||||||
|
1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 129043493 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 11 | 34759389 | intergenic variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.240 | 6 | 27566749 | intergenic variant | A/G | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 |
|
0.830 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.827 | 0.200 | 1 | 173266926 | regulatory region variant | A/C | snv | 0.21 |
|
0.720 | 1.000 | 1 | 2012 | 2013 | ||||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.880 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
0.882 | 0.200 | 6 | 31642752 | non coding transcript exon variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 173340574 | intergenic variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 12 | 12681960 | intron variant | C/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 12 | 128814840 | synonymous variant | G/A | snv | 0.13 | 9.1E-02 |
|
0.720 | 1.000 | 1 | 2010 | 2016 | |||||||
|
1.000 | 0.080 | 8 | 11593078 | regulatory region variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 1 | 184680369 | intergenic variant | C/A | snv | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 2 | 191090126 | intron variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 27592808 | upstream gene variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 15 | 38472642 | intron variant | C/T | snv | 9.3E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |