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 | 11 | 61955124 | frameshift variant | -/CA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61951822 | missense variant | A/C | snv | 0.800 | 1.000 | 19 | 1998 | 2012 | |||||
|
1 | 1.000 | 0.080 | 11 | 61959516 | missense variant | A/C | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
2 | 0.925 | 0.080 | 6 | 76018812 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 61951895 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 20 | 1998 | 2012 | |||
|
2 | 0.925 | 0.080 | 11 | 61959517 | missense variant | A/G | snv | 0.800 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61959547 | missense variant | A/G | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61959549 | missense variant | A/G | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61959553 | missense variant | A/G | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
2 | 0.925 | 0.160 | 1 | 162535706 | regulatory region variant | A/G | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 12 | 51919180 | missense variant | A/G | snv | 0.26 | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 11 | 61956897 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61951892 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 61957430 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 61951838 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 61959535 | missense variant | A/G;T | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61955127 | missense variant | A/T | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61955194 | missense variant | C/A | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61955771 | missense variant | C/A | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61955782 | missense variant | C/A | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61957420 | missense variant | C/A | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 61958153 | missense variant | C/A | snv | 0.700 | 1.000 | 18 | 1998 | 2011 | |||||
|
2 | 0.925 | 0.080 | 11 | 61959507 | missense variant | C/A | snv | 0.700 | 1.000 | 18 | 1998 | 2011 |