| 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 | 9 | 2011 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 4 | 2017 | 2018 | ||||||||
|
1 | 230712956 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 4 | 2017 | 2018 | |||||||||||
|
1 | 112648185 | intron variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||||
|
1 | 112673921 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2011 | 2017 | |||||||||||
|
1 | 112501706 | intron variant | G/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 112688881 | 5 prime UTR variant | G/T | snv | 6.6E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
1 | 172388301 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||||
|
1 | 11860132 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1 | 11905735 | upstream gene variant | C/T | snv | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 112646431 | intron variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 227064925 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 201755384 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 243329265 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 115294125 | intron variant | C/A | snv | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 115286557 | missense variant | C/T | snv | 1.0E-02 | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 10739520 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 188865413 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 116472496 | intron variant | G/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 243222734 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 112605645 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 46076007 | intron variant | T/G | snv | 9.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 1410616 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 217545447 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |