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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.360 | 13 | 30459095 | 3 prime UTR variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.280 | 20 | 62819980 | missense variant | C/T | snv | 4.7E-02 | 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 19 | 2176587 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.200 | 17 | 7634474 | downstream gene variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.200 | 11 | 64263769 | missense variant | C/T | snv | 4.9E-02 | 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.200 | 12 | 111535554 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 971991 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.851 | 0.160 | 4 | 971932 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 7 | 45915430 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 6 | 43843237 | downstream gene variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 3 | 2015 | 2019 |