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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 112229871 | missense variant | T/C;G | snv | 4.1E-06; 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112261736 | non coding transcript exon variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112261736 | non coding transcript exon variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112203573 | non coding transcript exon variant | T/G | snv | 0.10 | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
12 | 112344040 | intron variant | C/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 112191863 | intron variant | G/C | snv | 8.2E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112191863 | intron variant | G/C | snv | 8.2E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112191863 | intron variant | G/C | snv | 8.2E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112191863 | intron variant | G/C | snv | 8.2E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112191863 | intron variant | G/C | snv | 8.2E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 112246417 | intron variant | A/G;T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 112246417 | intron variant | A/G;T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 112246417 | intron variant | A/G;T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 112246417 | intron variant | A/G;T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 112246417 | intron variant | A/G;T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 12 | 112212323 | intron variant | A/G | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 112298314 | intron variant | A/G | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.800 | 1.000 | 1 | 2012 | 2013 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |