Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 2 | 108929288 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 8 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 108897130 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 108929225 | missense variant | T/G | snv | 1.2E-05 | 0.800 | 1.000 | 8 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 108896954 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 108929295 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 1999 | 2016 | |||
|
3 | 0.882 | 0.080 | 2 | 108896995 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 108929261 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 8 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 108896952 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 8 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 108930154 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 108897181 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 108897182 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 108897060 | frameshift variant | AA/- | delins | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 108897084 | frameshift variant | -/C | delins | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 108897165 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 108929381 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2011 | |||
|
1 | 1.000 | 0.080 | 2 | 108910784 | frameshift variant | TCTT/- | delins | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
2 | 0.925 | 0.080 | 2 | 108929262 | missense variant | G/A;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 108897122 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 108907892 | stop gained | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 108906307 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 108929276 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 108929347 | frameshift variant | G/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 108930250 | splice region variant | AAAGGGGGGTGTTGTGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 108907920 | stop gained | G/A;T | snv | 4.0E-06; 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 108897110 | missense variant | C/T | snv | 5.2E-05 | 2.1E-05 | 0.700 | 0 |