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 | 2 | 165310331 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 2009 | 2019 | |||||
|
1 | 1.000 | 2 | 165389291 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 2009 | 2019 | ||||||
|
1 | 1.000 | 2 | 165386971 | stop gained | G/A;T | snv | 0.700 | 1.000 | 20 | 2009 | 2019 | ||||||
|
1 | 1.000 | 2 | 165388692 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 2 | 165373342 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165386759 | missense variant | G/C | snv | 8.4E-04 | 3.4E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 165380718 | stop gained | C/A;G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165295824 | start lost | A/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165295834 | stop gained | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165310506 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165315649 | frameshift variant | CA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165323304 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165313924 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 165344627 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165344707 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165374689 | missense variant | T/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165308795 | splice donor variant | G/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165314014 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 165388647 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 2 | 165380702 | missense variant | A/C;G | snv | 0.800 | 1.000 | 20 | 2009 | 2019 | |||||
|
2 | 0.925 | 0.040 | 2 | 165389451 | missense variant | G/A;T | snv | 0.700 | 1.000 | 20 | 2009 | 2019 | |||||
|
2 | 0.925 | 0.080 | 2 | 165354267 | stop gained | G/A;T | snv | 0.800 | 1.000 | 5 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.080 | 2 | 165342465 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.080 | 2 | 165309414 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2018 | |||||
|
2 | 0.925 | 0.080 | 2 | 165344666 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2004 | 2018 |