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 | 0.080 | 1 | 247425167 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 2002 | 2014 | |||||
|
4 | 0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv | 0.800 | 1.000 | 7 | 2002 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 247424375 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 2002 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 247424756 | missense variant | C/A;T | snv | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 1 | 247425158 | missense variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
4 | 0.851 | 0.200 | 1 | 247424492 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 2002 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 247424365 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247424522 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247425434 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247424240 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247425018 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 247424228 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247424511 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247424662 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247425345 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247424357 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247423964 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247436053 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.120 | 1 | 247424507 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 247424442 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 1 | 247424369 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 1 | 247425180 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |