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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 1689677 | intron variant | G/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
1.000 | 0.040 | 10 | 1697382 | intron variant | T/C;G | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 1702876 | intron variant | T/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 1696668 | intron variant | T/C | snv | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 10 | 1186289 | intron variant | C/- | delins | 9.1E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
10 | 1727688 | intron variant | TA/-;TATA | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 10 | 1697417 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 1429570 | intron variant | C/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 1429570 | intron variant | C/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 1698084 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 18 | 48845622 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
10 | 1594941 | intron variant | T/C | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 10 | 1613599 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
10 | 1686832 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 10 | 1694438 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 58168600 | synonymous variant | C/T | snv | 0.39 | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 10 | 1217099 | missense variant | C/T | snv | 1.8E-04 | 7.0E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 58163161 | stop gained | T/C;G | snv | 4.0E-06 |
|
0.700 | 0 |