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 | 0.320 | 1 | 209796477 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 2002 | 2014 | |||||
|
1 | 1.000 | 0.240 | 1 | 209796476 | missense variant | C/A;T | snv | 0.810 | 1.000 | 4 | 2002 | 2010 | |||||
|
3 | 0.882 | 0.320 | 1 | 209788590 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2002 | 2015 | |||||
|
3 | 0.882 | 0.320 | 1 | 209790806 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2002 | 2010 | |||||
|
2 | 0.925 | 0.320 | 1 | 209801349 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2002 | 2010 | |||||
|
1 | 1.000 | 0.240 | 1 | 209788553 | missense variant | G/A | snv | 0.810 | 1.000 | 4 | 2002 | 2010 | |||||
|
3 | 0.882 | 0.320 | 1 | 209801389 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2017 | |||||
|
3 | 0.882 | 0.320 | 1 | 209796501 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2002 | 2014 | |||||
|
3 | 0.882 | 0.320 | 1 | 209788500 | frameshift variant | GGTACAGCTGC/- | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.240 | 1 | 209789669 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 1 | 209790539 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.400 | 1 | 209801398 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 1 | 209788508 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.320 | 13 | 31269278 | splice donor variant | G/A | snv | 7.0E-04 | 8.1E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.240 | 1 | 209796557 | splice region variant | G/C | snv | 0.32 | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
14 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2014 | 2014 |