| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 9 | 97690153 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 3 | 9765977 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.955 | 22 | 2002 | 2018 | |||||||
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 3 | 9754824 | missense variant | G/A;C | snv | 6.6E-03; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 1 | 97515785 | stop gained | G/A | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1 | 97450059 | missense variant | G/A;C | snv | 4.2E-04; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | |||||||
|
2 | 96115056 | missense variant | C/A;T | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.060 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | |||||||
|
2 | 9527876 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.240 | 11 | 94417624 | 3 prime UTR variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.070 | 1.000 | 7 | 2013 | 2019 | |||||||
|
0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 94292754 | intron variant | C/T | snv | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 9 | 94175398 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.763 | 0.360 | 9 | 94167461 | intron variant | T/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.080 | 10 | 94051682 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
3 | 93905912 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 10 | 92472490 | intron variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.240 | 10 | 92464408 | intron variant | C/T | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |