| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 186304150 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 186301446 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 186305519 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 10147444 | intron variant | T/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 169544768 | intron variant | A/G | snv | 0.92 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
8 | 25928927 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 |
|
0.050 | 0.600 | 5 | 2003 | 2017 | ||||||||
|
20 | 23046984 | 3 prime UTR variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
5 | 175547573 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
17 | 2063163 | 3 prime UTR variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
14 | 91824400 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 51844533 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 171724227 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
1 | 169506814 | intergenic variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 9278630 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 35187566 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 119250744 | intron variant | A/G | snv | 8.8E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 170885468 | intron variant | C/T | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 123323526 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 186297569 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 |