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 | 20 | 63490507 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 20 | 13625199 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 140801517 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | X | 77508625 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
2 | 1.000 | 16 | 78108446 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 0.925 | 0.200 | X | 65524113 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 2 | 15467394 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 20 | 32216664 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 17 | 44855003 | missense variant | T/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 7 | 100647014 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 3 | 101757754 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 8 | 38138822 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | X | 77688879 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | X | 77683580 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 8 | 143816728 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 11 | 118504037 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 3 | 47410284 | missense variant | C/T | snv | 8.4E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 3 | 47409268 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 3 | 47408451 | missense variant | C/T | snv | 1.4E-04 | 1.6E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 3 | 51208772 | splice acceptor variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 51312486 | frameshift variant | ACTT/- | delins | 0.700 | 0 | |||||||||
|
2 | 1.000 | 9 | 85619123 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 22 | 50676625 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 1 | 109258951 | missense variant | C/G;T | snv | 7.3E-05 | 0.700 | 0 |