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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 1.000 | 0.080 | 20 | 45906012 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 17 | 4871519 | intron variant | C/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 18 | 49634444 | intergenic variant | A/G | snv | 0.53 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1 | 55159875 | intron variant | C/T | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 55650832 | intron variant | C/T | snv | 2.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 15 | 58388444 | intron variant | G/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
6 | 1 | 62465961 | intron variant | C/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1 | 62494579 | non coding transcript exon variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 62503731 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 11 | 67361262 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 68794860 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 11 | 68794860 | missense variant | C/G;T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |