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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 1 | 161307402 | missense variant | G/A;C;T | snv | 3.2E-05; 5.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 17 | 15239555 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.080 | 19 | 40396207 | stop gained | A/T | snv | 8.0E-06 | 5.6E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 17 | 15239584 | start lost | A/G;T | snv | 0.700 | 1.000 | 16 | 1993 | 2002 | |||||
|
2 | 0.925 | 0.080 | 17 | 15230952 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 16 | 1993 | 2002 | ||||
|
2 | 0.925 | 0.080 | 1 | 161306774 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
2 | 0.925 | 0.080 | 1 | 161307403 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2007 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 161306815 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
1 | 1.000 | 0.080 | 1 | 161306810 | missense variant | T/G | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
1 | 1.000 | 0.080 | 19 | 40396063 | frameshift variant | A/- | delins | 0.700 | 1.000 | 4 | 2001 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 40397853 | missense variant | G/A | snv | 1.6E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 43636471 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
1 | 1.000 | 0.080 | 16 | 27352579 | missense variant | C/T | snv | 5.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 19 | 40395565 | frameshift variant | G/- | delins | 9.9E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.080 | 6 | 43636483 | missense variant | G/A | snv | 4.0E-06; 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
1 | 1.000 | 0.080 | 17 | 15230953 | missense variant | G/A;T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 3 | 9765848 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 161306355 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 40397340 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 15230931 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 |