| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 6 | 32608701 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2013 | |||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.770 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 |
|
0.730 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.827 | 0.280 | 7 | 128948946 | 3 prime UTR variant | T/C | snv | 9.0E-02 |
|
0.730 | 0.750 | 1 | 2007 | 2015 | ||||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.730 | 1.000 | 1 | 2015 | 2019 | |||||||
|
0.851 | 0.160 | 11 | 613208 | missense variant | T/C | snv | 0.25 | 0.33 |
|
0.720 | 0.667 | 1 | 2011 | 2017 | |||||||
|
0.925 | 0.160 | 7 | 74619286 | regulatory region variant | T/C | snv | 0.12 |
|
0.720 | 1.000 | 1 | 2017 | 2019 | ||||||||
|
0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 |
|
0.710 | 1.000 | 1 | 2015 | 2017 | |||||||
|
0.925 | 0.120 | 1 | 183580622 | intron variant | G/T | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.925 | 0.120 | 11 | 73152652 | intergenic variant | A/G | snv | 2.3E-03 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 85939006 | intron variant | G/A | snv | 0.19 |
|
0.710 | 0.500 | 1 | 2014 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 34856859 | missense variant | A/G;T | snv | 0.36 |
|
0.710 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.882 | 0.080 | 7 | 129055929 | non coding transcript exon variant | C/A | snv | 9.0E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2020 | ||||||||
|
1.000 | 0.080 | 1 | 183563302 | missense variant | G/A;C;T | snv | 1.9E-02; 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2015 | 2016 | ||||||||
|
1.000 | 0.080 | X | 154059995 | non coding transcript exon variant | A/C | snv | 0.17 |
|
0.710 | 0.500 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 119553544 | intron variant | G/A | snv | 0.54 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 206781696 | intron variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2013 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 75345203 | intron variant | T/C | snv | 0.61 |
|
0.710 | 1.000 | 1 | 2018 | 2019 | ||||||||
|
0.882 | 0.160 | 6 | 137874014 | intron variant | G/T | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 128888528 | intron variant | A/C | snv | 0.23 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 8 | 11169932 | intron variant | G/A | snv | 9.6E-04 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 183688220 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 4 | 101816093 | intron variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 79049054 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |