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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 2 | 102337157 | 5 prime UTR variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 | 0.810 | 1.000 | 3 | 2011 | 2014 | ||||
|
2 | 1.000 | 0.080 | 2 | 102338622 | intron variant | G/A | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2012 | ||||
|
8 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 0.710 | 1.000 | 3 | 2018 | 2019 | |||
|
2 | 1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 | 0.710 | 1.000 | 2 | 2010 | 2020 | |||
|
4 | 0.882 | 0.080 | 2 | 102319699 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||
|
4 | 0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 102340888 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 2 | 102309902 | upstream gene variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 2 | 102332701 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 2 | 102338596 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 2 | 102350446 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 2 | 102343750 | 3 prime UTR variant | T/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 102339008 | missense variant | C/A | snv | 0.23 | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 2 | 102348073 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |