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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 10 | 80158285 | intron variant | G/A | snv | 0.36 | 0.710 | 1.000 | 2 | 2008 | 2016 | ||||
|
8 | 0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
5 | 0.827 | 0.200 | 6 | 32373576 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 32460995 | intron variant | A/G | snv | 0.38 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 13 | 25849519 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.120 | 5 | 35857748 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 13 | 25854100 | intron variant | T/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 6 | 32378632 | intron variant | AGATAGAT/-;AGAT;AGATAGATAGAT;AGATAGATAGATAGAT;AGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGATAGAT | delins | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 25855238 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32587108 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32465348 | intron variant | A/C | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32633427 | intron variant | C/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 32629564 | intron variant | G/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 25851513 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 1 | 67134418 | intron variant | C/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 32470769 | intron variant | A/T | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32461917 | intron variant | C/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32334605 | intron variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 13 | 28483931 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 32462560 | intron variant | C/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32628470 | intron variant | G/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32632691 | intron variant | G/A | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32633277 | intron variant | C/A;G | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |