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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 5 | 2008 | 2013 | ||||
|
12 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 4 | 2009 | 2013 | ||||
|
10 | 0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 | 0.700 | 1.000 | 4 | 2008 | 2014 | |||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2011 | 2012 | |||||||
|
10 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
7 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 0.700 | 1.000 | 3 | 2012 | 2012 | |||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
10 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||
|
4 | 16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
9 | 0.851 | 0.240 | 16 | 56961915 | upstream gene variant | G/A | snv | 2.1E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
17 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
3 | 16 | 56977273 | non coding transcript exon variant | G/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
5 | 1.000 | 0.040 | 16 | 56973441 | synonymous variant | C/T | snv | 5.1E-02 | 6.6E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.700 | 1.000 | 2 | 2011 | 2012 | |||
|
3 | 16 | 56969234 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 16 | 56972466 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 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 | |||||||
|
3 | 1.000 | 16 | 56960280 | upstream gene variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 16 | 56968492 | intron variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 16 | 56978467 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
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 |