| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 20 | 49374644 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2014 | 2017 | |||||
|
3 | 0.882 | 0.040 | 20 | 49374519 | missense variant | G/C;T | snv | 0.800 | 1.000 | 3 | 2014 | 2015 | |||||
|
1 | 1.000 | 20 | 49374439 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2014 | 2015 | ||||||
|
1 | 1.000 | 20 | 49374425 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2014 | 2015 | ||||||
|
6 | 0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2017 | 2017 | |||||
|
1 | 1.000 | 20 | 49374472 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1.000 | 20 | 49374418 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 20 | 49374407 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 20 | 49374263 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 20 | 49374559 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 20 | 49373813 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 20 | 49374626 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 20 | 49374377 | missense variant | C/T | snv | 0.700 | 0 |