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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 10 | 119445148 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.080 | 7 | 84008281 | intron variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681768 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681654 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681559 | intron variant | T/A;G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 7 | 115311376 | intergenic variant | -/CAA | ins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 2 | 55278320 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 21 | 37649639 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37630840 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37710283 | intron variant | C/G;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 4 | 99336850 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 4 | 99336998 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 2 | 129236759 | intergenic variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 4 | 99150767 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 21 | 37664047 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 21 | 37663909 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37663813 | intron variant | A/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37663669 | intron variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37677171 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 21 | 37665865 | intron variant | T/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37665503 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 |