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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 16 | 56969234 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||||
|
2 | 16 | 56978467 | intron variant | T/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2011 | 2019 | ||||||
|
4 | 16 | 56966973 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 16 | 56983750 | 3 prime UTR variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2018 | ||||
|
2 | 16 | 56983850 | downstream gene variant | C/G | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||||
|
4 | 16 | 56970977 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2008 | 2019 | ||||||
|
2 | 16 | 56966372 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2018 | |||||||
|
2 | 16 | 56983090 | intron variant | T/G | snv | 0.10 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2012 | 2018 | ||||
|
5 | 16 | 56972466 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 16 | 56965416 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56960023 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 16 | 56960280 | upstream gene variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 16 | 56968492 | intron variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 16 | 56972160 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 16 | 56978651 | intron variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 56960300 | upstream gene variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 16 | 56971389 | splice region variant | C/T | snv | 0.40 | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 16 | 56973698 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56974315 | intron variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56961322 | upstream gene variant | C/A | snv | 5.2E-02 | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 16 | 56973539 | intron variant | G/A | snv | 0.76; 4.0E-06 | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 16 | 56974596 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 16 | 56975464 | intron variant | T/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 56975476 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |