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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 14 | 30885890 | missense variant | C/G | snv | 0.56 | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 8 | 74362940 | stop gained | C/G | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
8 | 0.790 | 0.080 | 8 | 74361886 | stop gained | C/T | snv | 7.6E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.080 | 8 | 74360184 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 19 | 40396207 | stop gained | A/T | snv | 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
5 | 0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 8 | 62972541 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.080 | 7 | 76304077 | stop gained | GC/CT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.851 | 0.160 | 16 | 56609431 | 3 prime UTR variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 16 | 56639236 | intron variant | A/G | snv | 0.71 | 0.67 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.120 | 19 | 10207300 | intron variant | G/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 65271097 | intergenic variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.080 | X | 71223852 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.882 | 0.080 | 1 | 10258602 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.040 | 7 | 76303007 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.120 | 1 | 161307308 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 19 | 45365131 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 7 | 30609729 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 1 | 12004835 | missense variant | G/A | snv | 2.1E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 |