| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 20 | 45916409 | upstream gene variant | C/T | snv | 0.68 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
20 | 23049706 | upstream gene variant | C/G;T | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 23047500 | 3 prime UTR variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
20 | 50191616 | missense variant | G/A | snv | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 38337858 | downstream gene variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 20 | 45906012 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
20 | 45908293 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 45826139 | intron variant | T/G | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
19 | 44917997 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
19 | 54288907 | intergenic variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
19 | 8368312 | intron variant | C/A | snv | 0.55 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
19 | 19244291 | intron variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 19064943 | intron variant | T/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 19009572 | intron variant | C/T | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 19047391 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 44949982 | upstream gene variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 11232027 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2009 | 2009 |