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 | 9720852 | frameshift variant | GGCGCTAGCCCGGC/- | del | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 9653442 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 9651584 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 9651584 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 9651616 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 9720754 | missense variant | C/T | snv | 3.3E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1 | 9721156 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.820 | 1.000 | 8 | 2006 | 2018 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 1 | 9724850 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 1 | 9724850 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 |