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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 0.964 | 28 | 2008 | 2019 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.900 | 0.933 | 15 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.120 | 19 | 19250926 | 3 prime UTR variant | G/A | snv | 0.24 | 0.850 | 1.000 | 5 | 2011 | 2015 | ||||
|
3 | 0.882 | 0.040 | 10 | 60540625 | intron variant | A/G | snv | 8.3E-02 | 0.840 | 1.000 | 6 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.080 | 11 | 79366149 | intron variant | A/G | snv | 0.15 | 0.820 | 1.000 | 7 | 2011 | 2018 | ||||
|
8 | 0.790 | 0.120 | 6 | 152469438 | intron variant | G/T | snv | 0.46 | 0.820 | 1.000 | 6 | 2011 | 2019 | ||||
|
9 | 0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 | 0.810 | 1.000 | 10 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 2310730 | intron variant | A/T | snv | 0.82 | 0.810 | 1.000 | 4 | 2011 | 2017 | ||||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.810 | 1.000 | 3 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv | 0.810 | 1.000 | 3 | 2007 | 2011 | |||||
|
3 | 0.882 | 0.120 | 2 | 98623468 | 3 prime UTR variant | C/T | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
5 | 0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 | 0.800 | 1.000 | 3 | 2011 | 2014 | ||||
|
7 | 0.851 | 0.040 | 1 | 78772330 | intergenic variant | T/C | snv | 0.29 | 0.800 | 1.000 | 3 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 66783531 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
3 | 0.882 | 0.040 | 10 | 60421370 | intron variant | G/A | snv | 7.5E-02 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 38703290 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2008 | 2011 | ||||
|
3 | 0.882 | 0.080 | 15 | 38694167 | intron variant | G/T | snv | 0.25 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 98106018 | intron variant | G/A | snv | 0.39 | 0.800 | 1.000 | 2 | 2014 | 2016 | ||||
|
2 | 0.925 | 0.040 | 10 | 60425736 | intron variant | C/T | snv | 7.9E-02 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.040 | 13 | 42079301 | intron variant | C/A | snv | 0.85 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 14 | 57652478 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.040 | 3 | 52786995 | missense variant | A/G | snv | 0.40 | 0.42 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 10 | 60562276 | intron variant | T/C | snv | 8.7E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 61366218 | intron variant | C/T | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 |