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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.160 | 7 | 100093577 | mature miRNA variant | C/T | snv | 6.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.120 | 14 | 100277470 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 8 | 100288040 | missense variant | C/G | snv | 4.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 10 | 100299692 | missense variant | C/T | snv | 6.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.200 | 3 | 10036306 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.827 | 0.240 | 14 | 100853087 | non coding transcript exon variant | A/G | snv | 0.42 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 7 | 100855831 | frameshift variant | G/- | delins | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
23 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
5 | 0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.925 | 0.080 | 11 | 101062537 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 11 | 101127694 | missense variant | C/G;T | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
5 | 0.851 | 0.080 | 11 | 101128058 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 11 | 101128241 | missense variant | G/C;T | snv | 4.7E-06; 4.7E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
7 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
4 | 0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 | 0.720 | 1.000 | 3 | 2013 | 2017 | |||
|
1 | 3 | 10142101 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.200 | 3 | 10146586 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.240 | 3 | 10149811 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2002 | 2004 |