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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 21 | 28883961 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 93889174 | synonymous variant | C/T | snv | 5.8E-02 | 5.9E-02 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
3 | 0.882 | 0.040 | 1 | 169549874 | missense variant | C/T | snv | 0.11 | 0.12 | 0.020 | 1.000 | 2 | 2000 | 2000 | |||
|
3 | 0.882 | 0.040 | 2 | 27222595 | missense variant | G/A | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2002 | 2006 | ||||
|
3 | 0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.040 | 10 | 89247582 | missense variant | C/T | snv | 9.5E-02 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.040 | 10 | 95058362 | missense variant | G/A;C | snv | 1.0E-04; 3.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.040 | 1 | 162199478 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.040 | 12 | 124822507 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 16 | 2110972 | missense variant | A/G | snv | 6.5E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 16 | 81238301 | upstream gene variant | C/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.040 | 8 | 37966277 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 1 | 230063651 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 8 | 75012585 | intron variant | A/C | snv | 0.33 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.040 | 9 | 69340801 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 7 | 93525009 | intron variant | A/G;T | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 4 | 115275150 | regulatory region variant | A/T | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 15 | 45111550 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.040 | 11 | 116836193 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
3 | 0.882 | 0.040 | 1 | 205515245 | intron variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 6 | 31577502 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 8 | 27605112 | missense variant | C/G;T | snv | 7.2E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
1 | 1.000 | 0.040 | 4 | 165484478 | missense variant | C/G;T | snv | 1.2E-05; 3.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 |