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 | 15 | 25339216 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371479 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371404 | missense variant | A/G;T | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371326 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25370741 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25339207 | stop gained | G/C | snv | 0.700 | 1.000 | 5 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25356840 | missense variant | C/G | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25355989 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 5 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 25354679 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371797 | missense variant | G/T | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25370810 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25370684 | missense variant | C/G | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 15 | 25356893 | missense variant | A/C;T | snv | 0.800 | 1.000 | 5 | 1998 | 2016 | |||||
|
2 | 1.000 | 0.080 | 15 | 25360443 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 1998 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25370598 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371426 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371397 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25405461 | start lost | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371814 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25356898 | splice acceptor variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25354685 | splice acceptor variant | T/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371364 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371153 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 25371000 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 15 | 25370913 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |