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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.760 | 1.000 | 22 | 1989 | 2016 | ||||
|
3 | 0.882 | 0.080 | 19 | 11113326 | missense variant | T/C | snv | 0.720 | 1.000 | 3 | 2000 | 2010 | |||||
|
3 | 0.882 | 0.120 | 19 | 11113665 | missense variant | A/C;G | snv | 0.720 | 0.667 | 3 | 1998 | 2010 | |||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.710 | 1.000 | 12 | 1990 | 2016 | ||||
|
4 | 0.882 | 0.160 | 19 | 11113338 | missense variant | G/A;C;T | snv | 1.6E-05 | 0.710 | 1.000 | 7 | 1998 | 2018 | ||||
|
3 | 0.882 | 0.080 | 19 | 11113293 | missense variant | T/A | snv | 0.710 | 1.000 | 3 | 1995 | 2005 | |||||
|
3 | 0.882 | 0.080 | 19 | 11113321 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 3 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113393 | frameshift variant | G/- | delins | 0.710 | 1.000 | 3 | 2000 | 2005 | |||||
|
2 | 0.925 | 0.080 | 19 | 11111550 | missense variant | A/C;G | snv | 2.4E-05 | 0.710 | 1.000 | 2 | 1996 | 2005 | ||||
|
4 | 0.882 | 0.120 | 19 | 11111523 | missense variant | A/G | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 1998 | 2005 | ||||
|
4 | 0.925 | 0.080 | 19 | 11111627 | missense variant | T/C | snv | 0.710 | 1.000 | 2 | 2001 | 2002 | |||||
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2001 | 2014 | ||||
|
2 | 0.925 | 0.080 | 19 | 11113621 | missense variant | A/G | snv | 0.710 | 1.000 | 2 | 1997 | 2010 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113651 | missense variant | A/G | snv | 0.710 | 1.000 | 2 | 2000 | 2005 | |||||
|
6 | 0.882 | 0.120 | 19 | 11113368 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||
|
7 | 0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 25 | 1997 | 2016 | |||
|
5 | 0.882 | 0.160 | 19 | 11113650 | missense variant | G/A;C | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 20 | 1998 | 2019 | ||||
|
4 | 0.925 | 0.080 | 19 | 11113620 | missense variant | G/A;C;T | snv | 4.0E-05 | 0.700 | 1.000 | 16 | 1995 | 2016 | ||||
|
5 | 0.882 | 0.080 | 19 | 11113307 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 15 | 1996 | 2016 | ||||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 15 | 1995 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 11113608 | missense variant | G/A;T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 15 | 1992 | 2017 | |||
|
4 | 0.925 | 0.080 | 19 | 11113382 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 11111543 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1973 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11111556 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 13 | 1973 | 2015 | ||||
|
3 | 1.000 | 0.080 | 19 | 11113678 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 2004 | 2016 |