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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||
|
6 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
1 | 16 | 56967026 | intron variant | G/A | snv | 9.4E-02 | 0.800 | 1.000 | 1 | 2014 | 2018 | ||||||
|
4 | 16 | 56966973 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2018 | ||||||
|
7 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2010 | 2012 | ||||
|
5 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||
|
8 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2019 | ||||
|
5 | 16 | 56972466 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 16 | 56965416 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 56977385 | non coding transcript exon variant | T/C | snv | 8.9E-04 | 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 | |||||
|
5 | 16 | 56973539 | intron variant | G/A | snv | 0.76; 4.0E-06 | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 16 | 56976020 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 56976029 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 16 | 56965346 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 56969811 | intron variant | G/T | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 56970065 | intron variant | T/C | snv | 0.97 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 |