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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 7 | 12148903 | intergenic variant | T/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 10 | 46033495 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.120 | X | 56565363 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.790 | 0.200 | 17 | 46014271 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.120 | 14 | 73192771 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 17 | 46018627 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.120 | 17 | 46018645 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.120 | 17 | 46018624 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.827 | 0.120 | 14 | 73186920 | missense variant | G/C;T | snv | 0.810 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 17 | 46018726 | missense variant | A/T | snv | 0.810 | 1.000 | 1 | 2001 | 2001 | |||||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
12 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.120 | 22 | 21772907 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.827 | 0.160 | 14 | 73192786 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 14 | 73219161 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
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 | |||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
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 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | 9 | 35060823 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |