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 | 0.925 | 0.120 | 17 | 45971888 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 17 | 46024034 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 79121657 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 5 | 102399606 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 46033495 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 17 | 46018645 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.120 | 17 | 46018726 | missense variant | A/T | snv | 0.810 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 17 | 45983891 | missense variant | C/T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 12 | 64484311 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 5 | 102419925 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 17 | 45974388 | missense variant | T/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 7 | 56019715 | missense variant | C/T | snv | 2.2E-04; 4.0E-06 | 1.9E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 17 | 44349572 | non coding transcript exon variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv | 0.030 | 1.000 | 3 | 1999 | 2005 | |||||
|
3 | 0.882 | 0.120 | 17 | 45983724 | missense variant | T/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 9 | 36840599 | missense variant | G/A | snv | 1.0E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.120 | 7 | 12148903 | intergenic variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 14 | 73192771 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 17 | 46018627 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.120 | 17 | 46018624 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.120 | 17 | 45983867 | missense variant | T/A;C | snv | 4.2E-06; 8.5E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 9 | 35060823 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.120 | 17 | 45996612 | missense variant | A/C | snv | 4.0E-06 | 0.820 | 1.000 | 6 | 1999 | 2008 | ||||
|
4 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1998 | 2017 | |||||
|
4 | 0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 3 | 2010 | 2017 |