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 | 162281335 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 2 | 162267342 | missense variant | A/C | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 2 | 162306761 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 162278232 | stop gained | G/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 2 | 162288244 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 162276832 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||
|
10 | 0.807 | 0.200 | 2 | 162273913 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 2 | 162288221 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||
|
1 | 1.000 | 2 | 162273914 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||
|
6 | 0.851 | 0.320 | 2 | 162282494 | missense variant | T/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 2 | 162281498 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||
|
1 | 1.000 | 2 | 162282558 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||
|
1 | 1.000 | 2 | 162281369 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2014 | 2014 | ||||||
|
2 | 0.851 | 0.240 | 2 | 162272377 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
9 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2020 | 2020 |