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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2016 | ||||
|
6 | 0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 1997 | 2009 | |||||
|
8 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 20 | 44406208 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv | 0.700 | 1.000 | 4 | 1977 | 2013 | |||||
|
1 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 27501147 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 17 | 63533914 | missense variant | C/G;T | snv | 8.0E-06; 6.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2008 | 2015 | |||||
|
2 | 0.925 | 0.040 | 11 | 17387395 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2011 | 2016 | |||||
|
2 | 0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
2 | 0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2000 | 2013 | |||||
|
3 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2006 | 2011 |