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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.851 | 0.160 | 22 | 21630805 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 3 | 160595133 | intergenic variant | G/T | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 31466589 | non coding transcript exon variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 32699098 | intergenic variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 31537703 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 32699566 | intergenic variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 31484059 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 31466554 | non coding transcript exon variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 31466844 | non coding transcript exon variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 31475005 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 31481199 | non coding transcript exon variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.160 | 1 | 113891324 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 4 | 971932 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 7 | 129007888 | intron variant | C/T | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 2 | 191068557 | 3 prime UTR variant | T/C | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 7 | 74123572 | downstream gene variant | T/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 1 | 173368608 | upstream gene variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.240 | 8 | 11484371 | upstream gene variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |