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 | 10 | 47865 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 10 | 47679 | missense variant | G/A | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 10 | 47706 | missense variant | A/G | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 10 | 47143 | missense variant | C/T | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 10 | 49234 | missense variant | C/T | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 10 | 47764 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
2 | 1.000 | 10 | 47629 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 10 | 47608 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 10 | 47607 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 10 | 47304 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 10 | 47492 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 10 | 48870 | start lost | GCGGAGTCGATGGCATGTTCA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 47349 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 47966 | frameshift variant | C/-;CC | delins | 0.700 | 0 |