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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.880 | 1.000 | 9 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 15327376 | non coding transcript exon variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 1 | 159722747 | intergenic variant | T/A | snv | 0.15 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 16120485 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 1 | 58292243 | intron variant | T/C | snv | 0.95 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
12 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 2 | 113731675 | intron variant | G/A | snv | 1.9E-02 | 4.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | 2 | 24670190 | intron variant | A/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 64122068 | intron variant | C/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 2 | 218393072 | missense variant | G/A | snv | 1.9E-03 | 8.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | 2 | 24771701 | downstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 3 | 16526578 | intron variant | AA/-;A;AAA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 3 | 139465437 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 3 | 175175985 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 139326219 | intron variant | T/G | snv | 0.90 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.790 | 0.360 | 3 | 12159406 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 190561126 | intron variant | G/A | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |