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 | 209790806 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 2002 | 2010 | |||||
|
2 | 0.925 | 0.200 | 1 | 209801280 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 2002 | 2009 | ||||
|
2 | 0.925 | 0.200 | 1 | 209788638 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 2002 | 2009 | |||||
|
2 | 0.925 | 0.320 | 1 | 209790539 | missense variant | C/A | snv | 0.800 | 1.000 | 8 | 2002 | 2009 | |||||
|
1 | 1.000 | 0.200 | 1 | 209801409 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 2002 | 2009 | |||||
|
4 | 0.851 | 0.400 | 1 | 209801398 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 2002 | 2009 | |||||
|
1 | 1.000 | 0.200 | 1 | 209788626 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 2002 | 2009 | |||||
|
2 | 0.925 | 0.320 | 1 | 209801349 | missense variant | A/G | snv | 0.800 | 1.000 | 8 | 2002 | 2009 | |||||
|
1 | 1.000 | 0.200 | 1 | 209796519 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2009 | ||||
|
3 | 0.882 | 0.320 | 1 | 209788590 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2002 | 2015 | |||||
|
3 | 0.882 | 0.320 | 1 | 209796477 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2008 | 2014 | |||||
|
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 | |||||
|
1 | 1.000 | 0.200 | 1 | 209788614 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.200 | 1 | 209801301 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 1 | 209789740 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 209796453 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 209789709 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 209788629 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 209792277 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 209796495 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 209801294 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 209788625 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 209801269 | stop gained | G/A | snv | 0.700 | 0 |