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 | 100671474 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 100681034 | 3 prime UTR variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 101160327 | intergenic variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 101160470 | intron variant | A/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 101183294 | intron variant | C/T | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101186966 | upstream gene variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101187569 | upstream gene variant | T/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 101538302 | intron variant | G/A | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 101548541 | intergenic variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 101728790 | regulatory region variant | A/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 101746707 | intron variant | C/T | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 101788512 | intron variant | A/G | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 10186296 | intron variant | C/G | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 10187476 | intron variant | C/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 101969429 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 102116028 | intron variant | T/G | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102227789 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 102237515 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 102346612 | intron variant | A/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 102352407 | intron variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 2 | 102354740 | intron variant | T/C;G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 102435015 | non coding transcript exon variant | AA/-;A;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 4 | 102527974 | intron variant | A/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 |