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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 8 | 21718897 | intron variant | C/G | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 3 | 114171881 | missense variant | C/A;T | snv | 8.7E-04 | 0.010 | < 0.001 | 1 | 2000 | 2000 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 22 | 19515751 | intron variant | G/C | snv | 0.84 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
5 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.200 | 12 | 71151778 | intron variant | T/A | snv | 7.6E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 11797731 | intron variant | G/A | snv | 0.13 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 231784475 | intron variant | G/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 17 | 7668996 | 3 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 113128926 | intron variant | G/A | snv | 0.21 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.080 | 18 | 905124 | 5 prime UTR variant | A/G | snv | 0.72 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 9 | 34635672 | missense variant | C/T | snv | 8.4E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 17 | 4721864 | downstream gene variant | G/A | snv | 0.62 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.200 | 3 | 227352 | intron variant | C/T | snv | 0.40 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
9 | 0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 21 | 17270927 | intergenic variant | G/A | snv | 1.00 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 22 | 19039100 | missense variant | A/G | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 11 | 124748043 | intron variant | A/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 9 | 133650175 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 12183853 | 3 prime UTR variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 2 | 211690360 | intron variant | T/C | snv | 0.48 | 0.010 | < 0.001 | 1 | 2017 | 2017 |