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 | 0.900 | 1.000 | 35 | 1998 | 2019 | |||||
|
8 | 0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv | 0.850 | 1.000 | 26 | 1998 | 2017 | |||||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.820 | 0.957 | 23 | 1998 | 2010 | |||||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.720 | 1.000 | 21 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 46018645 | missense variant | A/T | snv | 0.810 | 1.000 | 21 | 1998 | 2010 | |||||
|
3 | 0.882 | 0.120 | 17 | 46014277 | missense variant | A/T | snv | 0.800 | 1.000 | 20 | 1998 | 2005 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.900 | 1.000 | 12 | 1999 | 2019 | |||||
|
4 | 0.925 | 0.120 | 17 | 46010418 | intron variant | C/T | snv | 0.700 | 1.000 | 11 | 1998 | 2016 | |||||
|
5 | 0.827 | 0.120 | 14 | 73192721 | missense variant | G/T | snv | 0.700 | 1.000 | 9 | 1998 | 2017 | |||||
|
13 | 0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 2006 | 2017 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.700 | 1.000 | 6 | 1995 | 2017 | |||||
|
10 | 0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv | 0.700 | 1.000 | 5 | 1995 | 2015 | |||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.040 | 1.000 | 4 | 2010 | 2017 | ||||
|
17 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 0.040 | 1.000 | 4 | 2008 | 2016 | ||||
|
4 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1998 | 2017 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173631 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1997 | 2017 | |||||
|
13 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 0.710 | 1.000 | 4 | 2001 | 2018 | |||||
|
11 | 0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv | 0.030 | 1.000 | 3 | 2005 | 2012 | |||||
|
4 | 0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
3 | 0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv | 0.830 | 1.000 | 3 | 1999 | 2005 | |||||
|
11 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
5 | 0.851 | 0.200 | 9 | 35064167 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||
|
9 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
9 | 0.776 | 0.120 | X | 56565363 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.120 | 14 | 73171047 | missense variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2004 | 2010 |