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 | 11 | 76140853 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.200 | 12 | 106239293 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.200 | 10 | 121496717 | missense variant | G/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2012 | ||||
|
1 | 1.000 | 0.200 | 3 | 189894389 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||
|
2 | 0.925 | 0.240 | 3 | 189789816 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 3 | 189894305 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 3 | 189868596 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 3 | 189868597 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 3 | 189889478 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.200 | 3 | 189890795 | missense variant | A/T | snv | 0.800 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.200 | 3 | 189890817 | missense variant | T/G | snv | 0.800 | 1.000 | 1 | 2001 | 2001 |