Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 72267927 | intron variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
1 | 1 | 109424482 | intron variant | C/A | snv | 0.43 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 1 | 43563682 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
1 | 1 | 41283225 | intron variant | G/T | snv | 8.3E-02 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 1 | 41307830 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 1 | 72167202 | intron variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 1 | 95710380 | intron variant | A/T | snv | 0.34 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 1 | 153824539 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 109488323 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
2 | 1 | 204617919 | missense variant | G/A;T | snv | 0.20; 8.0E-06 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 1 | 41284976 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 72122436 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 72290366 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 1 | 59094665 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 1 | 109498058 | 3 prime UTR variant | C/T | snv | 0.37 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1 | 68973094 | upstream gene variant | T/A | snv | 0.78 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 201818812 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 43548609 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
2 | 1 | 72284165 | intron variant | T/C | snv | 0.82 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 83951902 | missense variant | T/C | snv | 6.4E-03 | 6.7E-03 | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1 | 31596465 | regulatory region variant | G/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 43914285 | 3 prime UTR variant | G/A | snv | 0.64 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 1 | 98115781 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
1 | 1 | 31596250 | regulatory region variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 1 | 97995576 | intron variant | G/C | snv | 0.91 | 0.700 | 1.000 | 2 | 2018 | 2019 |