| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv |
|
0.900 | 0.971 | 33 | 2011 | 2019 | |||||||||
|
0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 |
|
0.030 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 8 | 22164010 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 7553941 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 10 | 79614033 | stop gained | C/A;T | snv | 3.6E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.020 | 0.500 | 2 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 11 | 102530902 | upstream gene variant | G/A | snv | 5.5E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 11 | 1304599 | intron variant | T/C | snv | 9.7E-02 |
|
0.830 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | 17 | 7679695 | intron variant | C/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 15 | 85756967 | upstream gene variant | G/A | snv | 0.17 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 3 | 169746671 | intergenic variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.120 | 11 | 1288726 | synonymous variant | C/T | snv | 0.40 | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |