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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 13 | 48452997 | missense variant | C/T | snv | 0.800 | 1.000 | 19 | 1989 | 2017 | |||||
|
3 | 1.000 | 0.080 | 13 | 48463758 | missense variant | T/C | snv | 0.800 | 1.000 | 13 | 1989 | 2001 | |||||
|
2 | 1.000 | 0.080 | 13 | 48362847 | stop gained | C/T | snv | 0.700 | 1.000 | 10 | 1994 | 2016 | |||||
|
2 | 1.000 | 0.080 | 13 | 48368549 | stop gained | C/T | snv | 0.700 | 1.000 | 8 | 1995 | 2016 | |||||
|
2 | 1.000 | 0.080 | 13 | 48473391 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 8 | 2003 | 2017 | |||||
|
2 | 1.000 | 0.080 | 13 | 48379624 | stop gained | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 7 | 1996 | 2016 | ||||
|
2 | 1.000 | 0.080 | 13 | 48381402 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1994 | 2016 | |||||
|
2 | 1.000 | 0.080 | 13 | 48465238 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1989 | 2015 | |||||
|
1 | 1.000 | 0.080 | 13 | 48456342 | frameshift variant | -/A | delins | 0.700 | 1.000 | 5 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.080 | 13 | 48463835 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 1997 | 2012 | |||||
|
2 | 1.000 | 0.080 | 13 | 48362859 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1994 | 2016 | |||||
|
2 | 1.000 | 0.080 | 13 | 48465112 | splice donor variant | G/A;C | snv | 0.700 | 1.000 | 4 | 2005 | 2017 | |||||
|
1 | 1.000 | 0.080 | 13 | 48362957 | missense variant | G/A;C | snv | 0.700 | 1.000 | 4 | 2001 | 2015 | |||||
|
5 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 0.700 | 1.000 | 4 | 1989 | 2016 | |||||
|
2 | 1.000 | 0.080 | 13 | 48303925 | frameshift variant | -/C | delins | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
2 | 1.000 | 0.080 | 13 | 48345108 | stop gained | G/T | snv | 0.700 | 1.000 | 3 | 1996 | 2013 | |||||
|
4 | 0.925 | 0.080 | 13 | 48381414 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2013 | 2015 | |||||
|
2 | 1.000 | 0.080 | 13 | 48453032 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
1 | 1.000 | 0.080 | 13 | 48362865 | frameshift variant | AACAG/- | delins | 0.700 | 1.000 | 3 | 1997 | 2015 | |||||
|
3 | 0.925 | 0.200 | 13 | 48349024 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2002 | 2016 | |||||
|
19 | 0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 | 0.030 | 1.000 | 3 | 2016 | 2018 | ||||
|
2 | 1.000 | 0.080 | 13 | 48379606 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2017 | |||||
|
2 | 1.000 | 0.080 | 13 | 48367493 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2007 | 2016 | |||||
|
2 | 1.000 | 0.080 | 13 | 48362953 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 1.000 | 0.080 | 13 | 48473395 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2005 | 2017 |