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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 117341781 | intron variant | C/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 117338690 | intron variant | C/G | snv | 9.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
6 | 117303435 | intron variant | C/G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 6 | 117303386 | intron variant | C/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 117347826 | intron variant | G/A | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 117340261 | intron variant | A/G | snv | 9.6E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 117346046 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 6 | 117424500 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 6 | 117424500 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 117393231 | missense variant | A/G | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
6 | 117394232 | missense variant | C/G;T | snv | 1.5E-03; 8.1E-06 |
|
0.700 | 0 | |||||||||||||
|
6 | 117342468 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2013 | 2015 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 117359856 | missense variant | C/T | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 6 | 117301021 | missense variant | G/C | snv | 0.20 | 0.19 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 6 | 117359856 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 117317181 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 117322969 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 6 | 117322969 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 6 | 117301070 | missense variant | C/G;T | snv | 0.20 | 0.19 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 |