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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 18 | 1998 | 2015 | |||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 14 | 1997 | 2018 | ||||
|
8 | 0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 13 | 1998 | 2015 | |||||
|
14 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 1998 | 2017 | ||||
|
9 | 0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1999 | 2017 | |||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 9 | 1997 | 2015 | |||||
|
2 | 0.925 | 0.240 | 10 | 87933037 | missense variant | A/C;G | snv | 0.700 | 1.000 | 9 | 2005 | 2018 | |||||
|
8 | 0.790 | 0.160 | 10 | 87933154 | missense variant | G/A;T | snv | 0.700 | 1.000 | 9 | 2006 | 2017 | |||||
|
11 | 0.776 | 0.200 | 10 | 87957852 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 9 | 1998 | 2017 | |||||
|
8 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 0.700 | 1.000 | 8 | 2000 | 2016 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 1997 | 2014 | |||||
|
10 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 0.700 | 1.000 | 8 | 1998 | 2015 | |||||
|
8 | 0.790 | 0.160 | 10 | 87933129 | missense variant | T/C;G | snv | 0.700 | 1.000 | 7 | 1997 | 2018 | |||||
|
2 | 0.925 | 0.240 | 10 | 87957973 | missense variant | A/G;T | snv | 0.700 | 1.000 | 7 | 2005 | 2018 | |||||
|
2 | 0.925 | 0.240 | 10 | 87957940 | missense variant | T/C | snv | 0.700 | 1.000 | 7 | 2005 | 2018 | |||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 1.000 | 7 | 2000 | 2017 | |||||
|
3 | 0.925 | 0.080 | 10 | 87933166 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 1998 | 2014 | |||||
|
12 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 6 | 2000 | 2017 | |||||
|
7 | 0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv | 0.700 | 1.000 | 6 | 1997 | 2011 | |||||
|
4 | 0.882 | 0.160 | 10 | 87961042 | frameshift variant | ACTT/- | delins | 0.700 | 1.000 | 6 | 1997 | 2015 | |||||
|
14 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 1997 | 2017 | |||||
|
2 | 1.000 | 0.080 | 10 | 87864517 | stop gained | T/A;C;G | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2011 | ||||
|
3 | 0.925 | 0.080 | 10 | 87894089 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2015 | ||||
|
8 | 0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 2000 | 2014 | |||||
|
8 | 0.790 | 0.160 | 10 | 87931045 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 5 | 1998 | 2017 |