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 | 0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 | 0.710 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | X | 154032226 | missense variant | A/C | snv | 0.720 | 1.000 | 2 | 1999 | 2018 | |||||
|
2 | 0.925 | 0.120 | X | 154031415 | stop gained | A/G;T | snv | 0.710 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | X | 154030763 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | X | 154030643 | splice acceptor variant | TCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 154030662 | frameshift variant | GTGGGGG/-;G | delins | 6.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.882 | 0.080 | X | 154030665 | stop gained | GG/TA | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.880 | 1.000 | 8 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 154031364 | missense variant | A/C;G | snv | 0.810 | 1.000 | 1 | 1999 | 2017 | |||||
|
8 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.900 | 1.000 | 11 | 1999 | 2017 | |||||
|
2 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.840 | 1.000 | 4 | 1999 | 2017 | |||||
|
12 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.710 | 1.000 | 1 | 2002 | 2016 | ||||
|
4 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.870 | 1.000 | 7 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 154031226 | missense variant | G/A | snv | 1.4E-03 | 1.5E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | X | 154031445 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 1999 | 2017 | |||||
|
2 | 1.000 | 0.080 | X | 154031430 | missense variant | C/A;T | snv | 0.720 | 1.000 | 2 | 1999 | 2019 | |||||
|
1 | 0.925 | 0.080 | X | 154031427 | missense variant | G/A;C | snv | 0.810 | 1.000 | 1 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 154031406 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.882 | 0.120 | X | 154031373 | missense variant | G/C;T | snv | 0.810 | 1.000 | 1 | 1999 | 2017 | |||||
|
3 | 0.925 | 0.120 | X | 154031356 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 1999 | 2017 | |||||
|
4 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 0.740 | 1.000 | 4 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.080 | X | 154031220 | missense variant | G/A;T | snv | 7.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 0.720 | 1.000 | 2 | 1999 | 2010 | |||||
|
3 | 0.925 | 0.200 | X | 154031162 | synonymous variant | G/A;C | snv | 5.4E-06; 3.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | X | 154031145 | missense variant | G/C | snv | 7.4E-04 | 2.9E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 |