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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.080 | 1.000 | 8 | 2003 | 2019 | |||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.080 | 0.875 | 8 | 2012 | 2019 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.080 | 1.000 | 8 | 2002 | 2019 | ||||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.060 | 0.833 | 6 | 2008 | 2017 | ||||
|
8 | 0.790 | 0.200 | 17 | 46014271 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.200 | 17 | 45971867 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 17 | 45998697 | intron variant | C/T | snv | 0.18 | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||
|
4 | 0.882 | 0.160 | 17 | 45917282 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 1998 | 2017 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.020 | 0.500 | 2 | 2003 | 2010 | |||||
|
2 | 0.925 | 0.120 | 17 | 45983258 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.120 | 17 | 45983865 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 17 | 45977067 | non coding transcript exon variant | A/G | snv | 0.81 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 46023989 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 45908813 | intron variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 45996464 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 17 | 45983493 | missense variant | A/G | snv | 4.0E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.080 | 17 | 46028029 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 17 | 45987045 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 45991503 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
6 | 0.882 | 0.080 | 17 | 46024197 | 3 prime UTR variant | T/C | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 17 | 46018704 | missense variant | C/T | snv | 0.700 | 0 |