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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 5 | 173233011 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
3 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
8 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 7 | 35204548 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.882 | 0.120 | 9 | 6977633 | intron variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 5 | 173233003 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 85581440 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 0.080 | 4 | 166003471 | missense variant | T/C | snv | 2.1E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 7 | 151007245 | missense variant | C/G | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 6 | 43178806 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.882 | 0.080 | 14 | 23393437 | missense variant | C/A;T | snv | 9.3E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 12 | 114366360 | missense variant | C/T | snv | 1.2E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 2 | 130597533 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
4 | 0.925 | 0.080 | 11 | 47337496 | missense variant | C/T | snv | 1.5E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 1.000 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.120 | 11 | 72221370 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 130522115 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 5 | 173232938 | synonymous variant | C/G | snv | 9.9E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 |