| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 109595148 | missense variant | G/A | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 1535766 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 6 | 1610761 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
9 | 21971116 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
12 | 32740421 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 3 | 11013652 | 5 prime UTR variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 11 | 68357802 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.120 | 10 | 87057692 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 63496977 | missense variant | C/T | snv | 3.7E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 2 | 166012179 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.763 | 0.120 | 21 | 26051171 | missense variant | T/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
10 | 35127641 | intron variant | G/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 11 | 105029220 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
21 | 25982369 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
21 | 26000017 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
16 | 53826341 | missense variant | G/A | snv | 4.6E-04 | 5.7E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |