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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 17 | 39725125 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2013 | ||||
|
4 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 0.720 | 1.000 | 4 | 2010 | 2017 | |||||
|
4 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 0.710 | 1.000 | 3 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 132657203 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||
|
3 | 0.882 | 0.120 | 11 | 2150371 | intron variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.882 | 0.120 | 18 | 676008 | intron variant | G/C | snv | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
3 | 0.882 | 0.120 | 17 | 48334138 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 0.882 | 0.120 | 8 | 128546982 | intron variant | C/T | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 16858086 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 9 | 16911668 | intergenic variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 9 | 16877790 | intergenic variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.120 | 19 | 50850699 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 6 | 32518660 | missense variant | T/A;C | snv | 4.2E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 2 | 151286035 | intron variant | G/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 9 | 16865701 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 9 | 16854369 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 61970281 | intron variant | A/G | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 17 | 61852376 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 17 | 61902994 | intron variant | G/A | snv | 9.0E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 3 | 128085887 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 9 | 16848792 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 9 | 16856885 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.120 | 12 | 52235347 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 |