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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 12 | 25225625 | missense variant | T/C | snv |
|
0.800 | 1.000 | 5 | 2006 | 2012 | ||||||||||
|
12 | 25225676 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 12 | 25215476 | missense variant | C/T | snv | 5.5E-04 | 3.0E-04 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
12 | 25225657 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
12 | 25227262 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 25227262 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 12 | 25245355 | inframe insertion | -/CCA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 12 | 25245328 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 12 | 25227308 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 12 | 25206418 | 3 prime UTR variant | G/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 25206418 | 3 prime UTR variant | G/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 12 | 25245328 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 12 | 25245328 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 25244659 | intron variant | A/C | snv | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 25215538 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 25208712 | 3 prime UTR variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 12 | 25208208 | 3 prime UTR variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 25208208 | 3 prime UTR variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 25208208 | 3 prime UTR variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 25206009 | 3 prime UTR variant | T/C | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2020 | 2020 |