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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 32632634 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.080 | 6 | 32634619 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 6 | 32634619 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 6 | 32635879 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 32635879 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.160 | 6 | 32636021 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.160 | 6 | 32636021 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 32640505 | intron variant | -/A;GAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 6 | 32631878 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 32631878 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 32654605 | downstream gene variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 32654605 | downstream gene variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 32641593 | intron variant | G/C;T | snv | 3.2E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 6 | 32638107 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 6 | 32638107 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 6 | 32641817 | intron variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 32644174 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 6 | 32644524 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 6 | 32645524 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 32645524 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 32646583 | non coding transcript exon variant | A/T | snv | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 32646583 | non coding transcript exon variant | A/T | snv | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |