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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 11 | 72196080 | missense variant | C/T | snv | 4.0E-05 | 5.6E-05 | 0.020 | 1.000 | 2 | 1999 | 2000 | |||||
|
1 | 6 | 151013801 | missense variant | A/G | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2009 | ||||||
|
1 | 1 | 154157607 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 34202922 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 236884786 | intron variant | A/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 26725589 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 6 | 49444720 | missense variant | C/G;T | snv | 0.32 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||
|
1 | 11 | 72221671 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
1 | 10 | 133297981 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 1 | 115682372 | missense variant | G/A | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 10 | 34196864 | intron variant | T/C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 64453947 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 109539620 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 82838473 | synonymous variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 160419339 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 6 | 150905744 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
1 | 19 | 34378944 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1 | 1 | 115691354 | missense variant | G/A;T | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 236852992 | synonymous variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
1 | 8 | 72830736 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 17 | 28402435 | 3 prime UTR variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 64449470 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 64386187 | intron variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 9 | 133694338 | missense variant | C/G;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 49457808 | synonymous variant | C/T | snv | 0.56 | 0.59 | 0.010 | < 0.001 | 1 | 2003 | 2003 |