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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 4 | 1993 | 2018 | |||||
|
7 | 0.851 | 0.120 | 9 | 35685529 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2007 | 2010 | |||||
|
6 | 0.882 | 0.120 | 19 | 38584989 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2001 | 2002 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2011 | ||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1996 | 2007 | |||||
|
14 | 0.742 | 0.200 | 9 | 35065352 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
15 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.851 | 0.200 | 17 | 10535137 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.882 | 0.080 | 19 | 13371744 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.160 | 5 | 132385435 | stop gained | C/A;T | snv | 5.3E-04; 1.2E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.200 | 2 | 219421532 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
15 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 20 | 3889103 | start lost | G/A | snv | 6.7E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 17011736 | start lost | C/A | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 7 | 5529540 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.080 | 9 | 35689265 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 16 | 74719132 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
18 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 1 | 154173113 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |