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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | X | 149482996 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 11 | 1993 | 2015 | |||||
|
1 | 1.000 | 0.160 | X | 149490322 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149500977 | missense variant | G/C;T | snv | 0.800 | 1.000 | 22 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149503326 | missense variant | T/C | snv | 0.800 | 1.000 | 22 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149503371 | missense variant | G/T | snv | 0.800 | 1.000 | 22 | 1992 | 2014 | |||||
|
2 | 0.925 | 0.160 | X | 149482997 | missense variant | G/A | snv | 0.800 | 1.000 | 9 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 149503473 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 149503477 | missense variant | C/T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 149482894 | missense variant | C/G | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149483135 | missense variant | A/C | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149503468 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149482966 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149498202 | missense variant | C/G | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149483072 | stop gained | G/A;T | snv | 1.7E-05 | 0.710 | 1.000 | 6 | 1992 | 2016 | ||||
|
1 | 1.000 | 0.160 | X | 149498174 | missense variant | G/A | snv | 4.0E-03 | 1.5E-02 | 0.710 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.160 | X | 149490395 | missense variant | T/C | snv | 1.3E-03 | 4.8E-03 | 0.700 | 1.000 | 20 | 1992 | 2006 | |||
|
1 | 1.000 | 0.160 | X | 149496471 | missense variant | C/A;T | snv | 1.6E-05; 3.1E-03 | 0.700 | 1.000 | 20 | 1992 | 2006 | ||||
|
1 | 1.000 | 0.160 | X | 149498129 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
1 | 1.000 | 0.160 | X | 149504210 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
1 | 1.000 | 0.160 | X | 149490383 | missense variant | G/A | snv | 9.8E-05 | 5.7E-05 | 0.700 | 1.000 | 20 | 1992 | 2006 | |||
|
1 | 1.000 | 0.160 | X | 149498228 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
1 | 1.000 | 0.160 | X | 149486983 | synonymous variant | G/A | snv | 0.700 | 1.000 | 6 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.160 | X | 149483134 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 149490314 | missense variant | C/A | snv | 0.700 | 1.000 | 5 | 1996 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 149498301 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 4 | 1992 | 2014 |