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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
6 | 16 | 56970977 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2009 | 2018 | |||||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
4 | 16 | 56959974 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
7 | 16 | 56965416 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 16 | 56967026 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 16 | 56978442 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 16 | 56966973 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 16 | 56977273 | non coding transcript exon variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
10 | 0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 16 | 56965346 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 |