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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.080 | 4 | 89828156 | missense variant | A/C | snv | 8.0E-05 | 7.0E-05 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
|
3 | 0.882 | 0.080 | 11 | 121612692 | non coding transcript exon variant | C/T | snv | 0.55 | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.080 | 12 | 54182178 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 14 | 73192667 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 18 | 24164468 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 21 | 25955719 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.080 | 1 | 226894111 | missense variant | G/A | snv | 1.1E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 20 | 4163930 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.080 | 6 | 151966232 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.080 | 21 | 25897619 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.080 | 10 | 102231624 | missense variant | G/A;C;T | snv | 0.62; 8.3E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.080 | 10 | 58388932 | intron variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 15 | 32053864 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 10 | 119316984 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 11 | 14000092 | intron variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 2 | 112837294 | upstream gene variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 44352061 | missense variant | C/A;T | snv | 7.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 11 | 121605213 | synonymous variant | T/A | snv | 0.39 | 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 9 | 92129496 | upstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 10 | 119342186 | intron variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 21 | 25911912 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.080 | 14 | 73211867 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |