| 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 | 154622217 | upstream gene variant | T/C | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 154599778 | downstream gene variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
20 | 23076845 | upstream gene variant | T/C | snv | 0.90 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
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 | ||||||||||
|
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 | |||||||||||
|
14 | 58377808 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.120 | 6 | 11615072 | intergenic variant | G/A | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 64970119 | downstream gene variant | G/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 170254627 | intron variant | T/C | snv | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 76625137 | intron variant | C/T | snv | 4.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 168741790 | intron variant | C/A;T | snv | 6.7E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |