| 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 | X | 72462051 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 2012 | 2016 | ||||||
|
3 | 0.925 | X | 72462077 | missense variant | G/A | snv | 5.5E-06 | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||
|
1 | 1.000 | X | 72495167 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1.000 | X | 72462008 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
10 | 0.807 | 0.240 | X | 72495216 | stop gained | G/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||
|
4 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | X | 72489003 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.882 | X | 72490973 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | X | 72462072 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | X | 72464676 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | X | 72567970 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1.000 | X | 72495179 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72495184 | stop gained | G/A;T | snv | 3.9E-05 | 3.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | X | 72351763 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72351825 | missense variant | T/G | snv | 0.700 | 0 | |||||||||
|
7 | 0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | X | 72464673 | missense variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72572052 | splice region variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72572090 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72572084 | frameshift variant | TCAA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72568820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72491001 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72464699 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | X | 72351840 | splice acceptor variant | T/C | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.160 | X | 72488932 | splice donor variant | C/T | snv | 0.700 | 0 |