| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 21 | 45530803 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
5 | 80781309 | intron variant | G/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
2 | 219218640 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 233669782 | intron variant | C/T | snv | 4.0E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1 | 206480926 | intron variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||||
|
0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 16 | 55810697 | intron variant | G/A;T | snv | 8.0E-06; 0.73 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |