| 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 | 4 | 45545051 | intergenic variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 49589080 | intergenic variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 2 | 236520511 | intergenic variant | G/A | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 7 | 117981823 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 97705109 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 13 | 27346474 | upstream gene variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 3 | 164840807 | intergenic variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 9 | 86760399 | downstream gene variant | C/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 9 | 18166901 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.900 | 1.000 | 4 | 2004 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 |
|
0.820 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 |
|
0.720 | 1.000 | 2 | 2014 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 99332551 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99313896 | synonymous variant | A/G;T | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99317841 | non coding transcript exon variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 99329813 | intron variant | C/A | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99346215 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99336850 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 4 | 99336998 | intron variant | C/T | snv | 0.38 |
|
0.710 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 99344976 | synonymous variant | T/A;C | snv | 4.0E-06; 0.30 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 4 | 99353129 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 99150767 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 4 | 99126006 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 |
|
0.710 | 1.000 | 1 | 2019 | 2019 |