| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | MT | 5460 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 22 | 23791306 | intron variant | C/T | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 22 | 30342598 | non coding transcript exon variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 22 | 39237617 | intron variant | C/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 22 | 39248198 | intron variant | C/T | snv | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 21 | 34085692 | intron variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.200 | 20 | 54170358 | intron variant | C/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 20 | 54151852 | downstream gene variant | T/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 20 | 54162543 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 20 | 51542465 | missense variant | C/A;T | snv | 5.2E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.060 | 0.833 | 6 | 2007 | 2019 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.060 | 0.833 | 6 | 2006 | 2019 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.040 | 1.000 | 4 | 2006 | 2016 | |||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.240 | 19 | 40848628 | missense variant | A/T | snv | 2.0E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 19 | 1226602 | synonymous variant | C/G;T | snv | 6.7E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.882 | 0.200 | 19 | 41089049 | stop gained | C/G;T | snv | 4.0E-06; 5.8E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 18 | 59211042 | intergenic variant | C/T | snv | 0.23 |
|
0.710 | 0.500 | 1 | 2015 | 2018 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.050 | 1.000 | 5 | 2004 | 2019 |