| 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 | 169511938 | downstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169531352 | intron variant | C/A | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
9 | 133266804 | intron variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169508336 | downstream gene variant | A/C | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169491488 | non coding transcript exon variant | A/G | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
9 | 133271249 | intron variant | A/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||||
|
1 | 169382306 | intron variant | A/C;G | snv | 5.9E-03; 6.2E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
1 | 169510736 | downstream gene variant | C/T | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||||
|
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 | ||||||||||
|
8 | 25928927 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 23046984 | 3 prime UTR variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
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 | ||||||||||
|
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 | |||||||||||
|
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 | ||||||||||
|
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 | ||||||||||
|
4 | 186297569 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 |