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 | 10 | 121517441 | missense variant | T/G | snv | 0.810 | 1.000 | 14 | 1995 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 121517384 | missense variant | T/C | snv | 0.710 | 1.000 | 14 | 1995 | 2007 | |||||
|
2 | 0.925 | 0.080 | 10 | 121517382 | missense variant | T/G | snv | 0.800 | 1.000 | 13 | 1995 | 2007 | |||||
|
3 | 0.882 | 0.080 | 10 | 121496701 | missense variant | T/C;G | snv | 0.800 | 1.000 | 13 | 1995 | 2007 | |||||
|
6 | 0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.080 | 10 | 121517463 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1995 | 1998 | ||||
|
5 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 10 | 121488055 | missense variant | T/C;G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121520098 | inframe deletion | GTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121517464 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 121517316 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121520037 | inframe deletion | CGTGCTTGATCCACTGGA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv | 0.820 | 1.000 | 19 | 1994 | 2015 | |||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.820 | 1.000 | 15 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.120 | 10 | 121520084 | missense variant | GC/AA;TA | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 121520048 | missense variant | C/A;G | snv | 0.840 | 1.000 | 16 | 1995 | 2019 | |||||
|
9 | 0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv | 0.820 | 1.000 | 15 | 1995 | 2014 | |||||
|
8 | 0.776 | 0.160 | 10 | 121520052 | missense variant | T/G | snv | 0.720 | 1.000 | 2 | 2009 | 2014 | |||||
|
13 | 0.742 | 0.160 | 10 | 121520010 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.160 | 10 | 121517465 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.200 | 8 | 38424690 | missense variant | G/C | snv | 4.0E-06 | 0.850 | 1.000 | 11 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.200 | 8 | 38429808 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2006 | 2017 | |||||
|
2 | 0.925 | 0.200 | 8 | 38418227 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.200 | 8 | 38429826 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |