| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 5 | 41165642 | intron variant | C/T | snv | 7.5E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 6 | 106107150 | synonymous variant | G/A | snv | 9.7E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.120 | 9 | 117702042 | upstream gene variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 |
|
0.760 | 1.000 | 7 | 2013 | 2019 | ||||||||
|
0.925 | 0.080 | 21 | 33341701 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 1 | 161194005 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.120 | 7 | 90689160 | intron variant | G/C | snv | 0.39 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 11 | 112233502 | missense variant | A/G | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.851 | 0.160 | 17 | 78224125 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.867 | 15 | 2005 | 2017 | ||||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.708 | 0.360 | 13 | 30459095 | 3 prime UTR variant | C/T | snv | 0.20 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.776 | 0.160 | 19 | 45407414 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.020 | 0.500 | 2 | 2017 | 2018 | |||||||
|
0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 20 | 34437762 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 |