| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 10 | 95038992 | missense variant | T/C | snv | 8.3E-02 | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.240 | 4 | 54733168 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 10 | 95058362 | missense variant | G/A;C | snv | 1.0E-04; 3.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
17 | 64352432 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.200 | 15 | 45043384 | synonymous variant | C/G;T | snv | 1.1E-05; 1.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 4 | 54738774 | 3 prime UTR variant | G/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
16 | 768475 | missense variant | C/T | snv | 7.8E-04 | 3.6E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 38069747 | 3 prime UTR variant | T/C | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 102273431 | missense variant | C/G | snv | 2.4E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.200 | 5 | 218357 | start lost | T/A;C;G | snv | 8.7E-06; 8.7E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
X | 45746891 | intron variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
11 | 104944794 | missense variant | G/C | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 4 | 54274917 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 54727456 | missense variant | T/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 0.040 | 10 | 95069673 | upstream gene variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2014 |