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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 6 | 22056694 | splice region variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 6 | 22056694 | splice region variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 6 | 22056694 | splice region variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 6 | 22056694 | splice region variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 21824163 | intron variant | C/T | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
6 | 22392594 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 22392031 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 6 | 22591296 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 22110919 | splice region variant | G/A | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 6 | 22078386 | intron variant | G/A | snv | 0.64 |
|
0.720 | 1.000 | 1 | 2009 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 22136033 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 22136033 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 22136033 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 22136033 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 6 | 22057337 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 6 | 22057337 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 6 | 22057337 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 21948833 | intron variant | G/A | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 21956173 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 21724439 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 21920795 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.160 | 6 | 22139775 | intron variant | A/G | snv | 0.62 |
|
0.840 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
6 | 21886258 | non coding transcript exon variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 21919156 | intron variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 21959834 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |