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 | 0.120 | 5 | 78885764 | missense variant | A/G | snv | 0.800 | 1.000 | 18 | 1991 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 78964532 | missense variant | A/G | snv | 0.800 | 1.000 | 17 | 1991 | 2017 | |||||
|
1 | 1.000 | 0.120 | 5 | 78839372 | missense variant | G/A;C | snv | 4.8E-05; 2.0E-05 | 0.800 | 1.000 | 17 | 1991 | 2014 | ||||
|
2 | 0.925 | 0.160 | 5 | 78964477 | missense variant | T/C | snv | 2.7E-04 | 1.7E-04 | 0.830 | 1.000 | 15 | 1996 | 2014 | |||
|
1 | 1.000 | 0.120 | 5 | 78985004 | missense variant | A/C;G | snv | 5.7E-06; 5.7E-06 | 0.800 | 1.000 | 15 | 1991 | 2012 | ||||
|
1 | 1.000 | 0.120 | 5 | 78780407 | missense variant | G/C | snv | 0.700 | 1.000 | 12 | 1991 | 2012 | |||||
|
1 | 1.000 | 0.120 | 5 | 78780437 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1991 | 2012 | |||||
|
1 | 1.000 | 0.120 | 5 | 78955477 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 1991 | 2012 | |||||
|
1 | 1.000 | 0.120 | 5 | 78969068 | missense variant | C/A;G | snv | 0.700 | 1.000 | 12 | 1991 | 2012 | |||||
|
1 | 1.000 | 0.120 | 5 | 78969069 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1991 | 2012 | |||||
|
1 | 1.000 | 0.120 | 5 | 78969079 | missense variant | C/G | snv | 0.700 | 1.000 | 12 | 1991 | 2012 | |||||
|
1 | 1.000 | 0.120 | 5 | 78969158 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1991 | 2012 | ||||
|
4 | 0.882 | 0.160 | 5 | 78969051 | missense variant | G/A | snv | 1.2E-05 | 7.7E-05 | 0.810 | 1.000 | 12 | 1994 | 2014 | |||
|
1 | 1.000 | 0.120 | 5 | 78969026 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 9 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 78839434 | splice region variant | A/C | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2005 | 2016 | ||||
|
3 | 0.882 | 0.120 | 7 | 65979782 | missense variant | G/A | snv | 5.6E-05 | 7.0E-05 | 0.700 | 1.000 | 7 | 1994 | 2018 | |||
|
1 | 1.000 | 0.120 | 5 | 78885782 | missense variant | C/G;T | snv | 8.0E-06 | 0.800 | 1.000 | 7 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.120 | 5 | 78969027 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 6 | 1994 | 2017 | |||
|
1 | 1.000 | 0.120 | 5 | 78969075 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 6 | 1994 | 2016 | |||
|
1 | 1.000 | 0.120 | 5 | 78885747 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06; 4.8E-05 | 0.700 | 1.000 | 6 | 2004 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 78885783 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 6 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 78885789 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 78984965 | missense variant | C/G;T | snv | 6.8E-06; 6.8E-06 | 0.800 | 1.000 | 4 | 1996 | 2007 | ||||
|
1 | 1.000 | 0.120 | 5 | 78985092 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.120 | 5 | 78885647 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2000 | 2015 |