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 | 0.080 | 3 | 46859529 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 2002 | 2017 | |||
|
5 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.040 | 11 | 19188245 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2004 | 2018 | |||||
|
3 | 0.882 | 0.040 | 11 | 19188286 | missense variant | A/G | snv | 1.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2009 | |||||
|
4 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 0.710 | 1.000 | 11 | 1996 | 2016 | ||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.740 | 1.000 | 17 | 1998 | 2019 | |||||
|
5 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.807 | 0.120 | 15 | 63060915 | missense variant | A/G;T | snv | 0.040 | 1.000 | 4 | 2000 | 2014 | |||||
|
9 | 0.776 | 0.160 | 15 | 63060899 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.800 | 1.000 | 28 | 1994 | 2019 | |||
|
2 | 0.925 | 0.080 | 15 | 63057028 | missense variant | T/C | snv | 0.710 | 1.000 | 4 | 2001 | 2011 | |||||
|
4 | 0.882 | 0.120 | 17 | 10692805 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.740 | 1.000 | 30 | 1997 | 2016 | ||||
|
3 | 0.882 | 0.080 | 19 | 55151851 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
4 | 0.882 | 0.080 | 19 | 55151881 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2016 | ||||
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 13 | 2003 | 2013 | |||||
|
11 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.807 | 0.160 | X | 101401752 | missense variant | C/G;T | snv | 5.5E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | X | 120442599 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2005 | 2009 | |||||
|
3 | 0.882 | 0.160 | 17 | 80112655 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 3 | 122284403 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 5 | 132390825 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 15 | 66436750 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |