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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.827 | 0.320 | 2 | 218814186 | missense variant | C/A;T | snv | 8.0E-06; 2.9E-04 | 0.830 | 1.000 | 19 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 218814701 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.810 | 1.000 | 13 | 1991 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 218814716 | missense variant | C/A;G;T | snv | 1.6E-05; 1.2E-05; 4.4E-05 | 0.810 | 1.000 | 11 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 218814702 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.810 | 1.000 | 6 | 1991 | 2002 | |||
|
1 | 1.000 | 0.080 | 2 | 218814409 | missense variant | G/A | snv | 4.0E-05 | 7.0E-06 | 0.800 | 1.000 | 14 | 1991 | 2018 | |||
|
1 | 1.000 | 0.080 | 2 | 218809755 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 1991 | 2002 | |||||
|
1 | 1.000 | 0.080 | 2 | 218813095 | missense variant | C/T | snv | 8.1E-05; 4.0E-06 | 1.1E-04 | 0.700 | 1.000 | 9 | 1994 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 218809700 | missense variant | C/G;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 1.000 | 9 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 218809701 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 9 | 1996 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 218814459 | splice donor variant | G/A;T | snv | 2.8E-05 | 0.700 | 1.000 | 7 | 1996 | 2017 | ||||
|
3 | 0.882 | 0.200 | 2 | 218814408 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 218809731 | missense variant | G/A | snv | 3.6E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 1994 | 2018 | |||
|
1 | 1.000 | 0.080 | 2 | 218814188 | splice donor variant | G/A | snv | 1.6E-04 | 9.8E-05 | 0.700 | 1.000 | 4 | 1997 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 218812681 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2000 | 2013 | |||
|
1 | 1.000 | 0.080 | 2 | 218812300 | frameshift variant | G/- | delins | 0.700 | 1.000 | 4 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 218809719 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.080 | 2 | 218812923 | splice acceptor variant | G/A | snv | 6.4E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 1993 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 218812750 | splice donor variant | G/A;C;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 218809768 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 218809730 | missense variant | C/A;T | snv | 4.4E-05 | 0.700 | 1.000 | 3 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 218809756 | synonymous variant | G/A;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 2 | 1998 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 218812713 | stop gained | C/G;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 218814181 | frameshift variant | CT/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 2 | 218815007 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 218813022 | frameshift variant | TGGCC/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 |