| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 6 | 45438040 | missense variant | G/A | snv | 0.820 | 1.000 | 20 | 1997 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 45432011 | missense variant | G/A | snv | 0.810 | 1.000 | 18 | 1997 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 45431963 | missense variant | T/C;G | snv | 2.0E-05 | 0.800 | 1.000 | 18 | 1997 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 45438039 | missense variant | C/T | snv | 0.800 | 1.000 | 18 | 1997 | 2018 | |||||
|
2 | 0.925 | 0.120 | 6 | 45437964 | missense variant | A/G | snv | 0.800 | 1.000 | 18 | 1997 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 45431945 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 18 | 1997 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 45438020 | missense variant | A/T | snv | 0.700 | 1.000 | 18 | 1997 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 45431915 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 6 | 45512277 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 45547304 | stop lost | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 45432008 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 45431962 | missense variant | A/G | snv | 1.1E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 45546910 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 45422618 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 45422723 | frameshift variant | GCAGCAACAGCAGCA/ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 45546964 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 45431875 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 6 | 45431872 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |