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 | 0.120 | 15 | 48465619 | missense variant | AC/CA | mnv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 13 | 42606725 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.120 | X | 32365169 | missense variant | C/A;T | snv | 2.1E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 18 | 55232669 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 15 | 48463168 | frameshift variant | -/GAAT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 11 | 68363818 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.200 | 15 | 48487155 | missense variant | C/T | snv | 1.3E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.240 | 11 | 68357673 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
8 | 0.776 | 0.200 | 15 | 48474566 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.200 | 15 | 48448894 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.200 | 15 | 48496204 | frameshift variant | GTACACATTCA/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.200 | 15 | 48437898 | stop gained | A/C;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.200 | 15 | 48485374 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.200 | 15 | 48468097 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.200 | 15 | 48415759 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.200 | 15 | 48432944 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.200 | 15 | 48495219 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.200 | 15 | 48515393 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.200 | 15 | 48468542 | splice region variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.200 | 15 | 48430736 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.200 | 15 | 48437069 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.752 | 0.200 | 15 | 48505037 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.752 | 0.200 | 15 | 48515382 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.752 | 0.200 | 15 | 48495155 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.742 | 0.200 | 15 | 48537629 | missense variant | G/A | snv | 0.700 | 0 |