Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 142546324 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 142545016 | intron variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142544970 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 142558733 | synonymous variant | A/T | snv | 0.55 | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
3 | 142558733 | synonymous variant | A/T | snv | 0.55 | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
3 | 142558733 | synonymous variant | A/T | snv | 0.55 | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 142469495 | missense variant | A/C | snv | 3.2E-03 | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 3 | 142469458 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142484015 | intron variant | A/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142495088 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142496336 | intron variant | -/ATATCT;ATCT;ATGTATATATATATACATGTATATATATATGTATATATATATATCT;CT | delins | 9.6E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142460655 | non coding transcript exon variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 142460655 | non coding transcript exon variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142576526 | intron variant | C/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142576526 | intron variant | C/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 142576526 | intron variant | C/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 142515148 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 142496336 | intron variant | A/C;G | snv | 1.1E-05; 0.51; 5.7E-06 | 0.62 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
3 | 142491959 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
3 | 142491959 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
3 | 142509060 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
3 | 142541720 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 142541720 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 142532741 | intron variant | C/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 142525008 | intron variant | T/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |