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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 4 | 67919056 | missense variant | T/A;C;G | snv | 0.67 | 0.020 | 1.000 | 2 | 2006 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 55653725 | intergenic variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 5 | 149524529 | intron variant | A/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 4 | 125491736 | missense variant | C/T | snv | 4.9E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 4 | 125318831 | missense variant | C/G;T | snv | 4.0E-06; 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.080 | 6 | 40834522 | intergenic variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.080 | 10 | 94308190 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 94347914 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 90862614 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 94326321 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94330915 | 3 prime UTR variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 111702865 | intron variant | A/G | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 106056773 | intron variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94296872 | intron variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94312471 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 94330382 | 3 prime UTR variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 159804618 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.080 | 19 | 582982 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.080 | 1 | 153615864 | splice region variant | C/T | snv | 0.40 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 4 | 9910477 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 4 | 125449492 | missense variant | G/A;T | snv | 4.3E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 81122216 | intergenic variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.080 | 2 | 201298088 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 22 | 38336819 | intron variant | G/A | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 11 | 108227656 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 |