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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 6 | 41953503 | intron variant | G/T | snv | 0.13 | 0.800 | 1.000 | 2 | 2009 | 2016 | ||||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | |||||||
|
7 | 6 | 41957421 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
1 | 6 | 41936044 | missense variant | A/C;G;T | snv | 0.54; 1.6E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
5 | 6 | 41957260 | intron variant | C/T | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 6 | 41957566 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
5 | 6 | 41957552 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 41940117 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 6 | 41956631 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 41942326 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 41934917 | downstream gene variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 41936060 | stop gained | C/A;G;T | snv | 1.2E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 42010674 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 41960075 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 6 | 42044421 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 42015219 | intron variant | C/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 41973431 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 41950452 | intron variant | T/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 6 | 41946640 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 6 | 42030188 | splice region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 42029960 | intron variant | T/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 42027559 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 42028869 | intron variant | T/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2009 | 2009 |