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 | 10 | 121517420 | missense variant | T/C | snv | 0.800 | 1.000 | 18 | 1994 | 2016 | |||||
|
1 | 1.000 | 0.080 | 10 | 121517385 | missense variant | A/G | snv | 0.800 | 1.000 | 16 | 1994 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 121520044 | missense variant | T/C | snv | 0.800 | 1.000 | 16 | 1994 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 121520016 | missense variant | T/C | snv | 0.700 | 1.000 | 16 | 1994 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 121517394 | missense variant | C/G;T | snv | 0.800 | 1.000 | 16 | 1994 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 121520049 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121519995 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121517396 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121520130 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 10 | 121517382 | missense variant | T/G | snv | 0.700 | 1.000 | 16 | 1994 | 2007 | |||||
|
2 | 0.925 | 0.080 | 10 | 121503857 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 10 | 121565633 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 10 | 121488065 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 10 | 121496555 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 10 | 121479954 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
2 | 0.925 | 0.080 | 10 | 121520092 | missense variant | A/C | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 121517316 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 10 | 121517372 | missense variant | G/C | snv | 7.0E-06 | 0.810 | 1.000 | 16 | 1994 | 2007 | ||||
|
3 | 0.882 | 0.120 | 10 | 121520076 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.280 | 10 | 121498591 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.080 | 10 | 121551382 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 10 | 121517377 | missense variant | G/C | snv | 0.820 | 1.000 | 17 | 1994 | 2007 | |||||
|
4 | 0.851 | 0.120 | 10 | 121517391 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 10 | 121488064 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 0.810 | 1.000 | 17 | 1994 | 2019 |