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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 10 | 100988947 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.240 | X | 107640938 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.240 | X | 107650000 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 7 | 107661723 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 7 | 107661750 | stop gained | G/C;T | snv | 2.7E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 7 | 107663357 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 7 | 107663412 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 7 | 107663430 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.120 | 7 | 107674337 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 7 | 107674944 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 7 | 107675050 | missense variant | C/G | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.160 | 7 | 107683453 | splice acceptor variant | A/G | snv | 3.6E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 7 | 107689130 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107689166 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 7 | 107690148 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107690199 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 107690200 | missense variant | G/A;C | snv | 1.0E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 107690203 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107690236 | missense variant | A/C;G | snv | 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 7 | 107694457 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 7 | 107694473 | missense variant | T/G | snv | 1.0E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.120 | 7 | 107694478 | stop gained | A/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 7 | 107694478 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 7 | 107694622 | stop gained | C/A;G;T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 7 | 107696014 | frameshift variant | T/- | delins | 0.700 | 0 |