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 | 0.200 | 7 | 255869 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 208951 | missense variant | G/A;T | snv | 4.9E-06; 9.8E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 7 | 255939 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 259870 | missense variant | C/T | snv | 1.4E-05 | 1.4E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.200 | 7 | 248312 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 255912 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 257003 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 246512 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 258645 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 195685 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 208909 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 7 | 248340 | missense variant | C/T | snv | 7.1E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.240 | 7 | 255998 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.240 | 7 | 208916 | missense variant | C/T | snv | 2.5E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2015 | |||
|
1 | 1.000 | 0.200 | 7 | 256004 | missense variant | T/A | snv | 4.8E-03 | 5.9E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 |