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 | 169542517 | missense variant | T/C | snv | 0.28 | 0.24 |
|
0.710 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
4 | 186266415 | intron variant | G/A | snv | 0.34 |
|
0.710 | 1.000 | 3 | 2010 | 2012 | ||||||||||
|
0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 |
|
0.710 | 1.000 | 2 | 2006 | 2011 | ||||||||
|
0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 |
|
0.710 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
20 | 23076845 | upstream gene variant | T/C | snv | 0.90 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 169522317 | intron variant | G/A | snv | 0.95 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||||
|
1 | 169506814 | intergenic variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
10 | 119250744 | intron variant | A/G | snv | 8.8E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 169459706 | intron variant | C/T | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169454860 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169327626 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
16 | 81837364 | intron variant | C/T | snv | 9.6E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 169498416 | non coding transcript exon variant | G/A | snv | 0.98 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169521154 | intron variant | G/C | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169528818 | intron variant | A/G | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 207108804 | intron variant | C/A;G | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 11 | 46739206 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
4 | 186264957 | upstream gene variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
8 | 105578478 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||||
|
0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
9 | 133267960 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1.000 | 0.080 | 1 | 169529596 | intron variant | T/A;C | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |