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 | 0.320 | 4 | 6301739 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6291961 | stop gained | C/T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6302250 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 4 | 6289078 | frameshift variant | -/GGCCGTCGCGAGGCTG | delins | 4.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.320 | 4 | 6289047 | missense variant | G/A | snv | 2.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.320 | 4 | 6301104 | missense variant | G/A;C;T | snv | 6.3E-04; 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6301405 | missense variant | G/A | snv | 1.0E-04; 4.0E-06 | 3.3E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.360 | 4 | 6301467 | missense variant | C/A;T | snv | 6.7E-04 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6301966 | missense variant | C/T | snv | 3.2E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.320 | 4 | 6301879 | missense variant | G/A;T | snv | 4.8E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6301306 | missense variant | C/A;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6302164 | stop gained | C/A;G;T | snv | 3.3E-05; 1.9E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6301914 | missense variant | G/A;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6302001 | missense variant | G/A;C | snv | 3.3E-05; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6300669 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6300668 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6301030 | inframe deletion | TTC/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.320 | 4 | 6301484 | inframe deletion | CCTCTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | 4 | 6301440 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.320 | 4 | 6277579 | stop gained | C/G;T | snv | 9.3E-05 | 0.700 | 1.000 | 3 | 1998 | 2008 | ||||
|
1 | 1.000 | 0.320 | 4 | 6301801 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2012 | ||||
|
1 | 1.000 | 0.320 | 4 | 6291241 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 0.700 | 1.000 | 8 | 1998 | 2012 | |||
|
1 | 1.000 | 0.320 | 4 | 6302247 | missense variant | C/T | snv | 5.0E-03 | 4.0E-03 | 0.700 | 1.000 | 8 | 1998 | 2012 | |||
|
1 | 1.000 | 0.320 | 4 | 6277628 | missense variant | C/A;T | snv | 2.3E-04 | 8.4E-05 | 0.700 | 1.000 | 8 | 1998 | 2012 |