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 | 0.080 | 15 | 31042140 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 3 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 15 | 31068010 | missense variant | A/G | snv | 1.2E-04 | 1.6E-04 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 31031040 | missense variant | T/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 15 | 31061447 | missense variant | A/C | snv | 2.0E-05 | 8.4E-05 | 0.700 | 1.000 | 3 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 15 | 31032927 | missense variant | T/C | snv | 8.7E-04 | 1.5E-04 | 0.700 | 1.000 | 3 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 15 | 31040206 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 15 | 31069884 | stop gained | A/C | snv | 4.3E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||
|
1 | 1.000 | 0.080 | 15 | 31042102 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 15 | 31066093 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 31047187 | missense variant | A/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 15 | 31035551 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 31068091 | missense variant | T/C | snv | 1.6E-04 | 2.1E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 31028454 | stop gained | A/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 31070213 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 31068090 | stop gained | A/C;G | snv | 6.4E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 31047209 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 31062573 | splice donor variant | TTAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 31068086 | missense variant | G/A | snv | 3.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 31032930 | stop gained | G/T | snv | 0.700 | 0 |