| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 8 | 2011 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 5 | 2009 | 2018 | ||||||||
|
1 | 10736490 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
1 | 112673921 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2011 | 2017 | |||||||||||
|
1 | 112504257 | intron variant | C/A | snv | 7.8E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1 | 112501706 | intron variant | G/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 41399621 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1 | 88866416 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 230712956 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||||
|
1 | 153689947 | missense variant | G/A | snv | 9.5E-03 | 1.1E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 15471702 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
1 | 184616048 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 11905735 | upstream gene variant | C/T | snv | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 1748780 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 232393998 | downstream gene variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 15467418 | synonymous variant | G/A;C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 197172123 | intron variant | A/C | snv | 0.28 | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 180890232 | 3 prime UTR variant | T/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 16015154 | 3 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 112646431 | intron variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 221040655 | intergenic variant | G/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 172240607 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 23736497 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 88894475 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 88186088 | intron variant | C/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |