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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 179218315 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 2004 | 2012 | |||||||
|
1 | 18 | 51065532 | missense variant | C/A | snv | 0.700 | 1.000 | 7 | 1996 | 2007 | |||||||
|
1 | 18 | 51078417 | missense variant | G/T | snv | 0.700 | 1.000 | 7 | 1996 | 2007 | |||||||
|
1 | 5 | 112839693 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 1992 | 2015 | |||||||
|
1 | 5 | 112839879 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1992 | 2014 | |||||||
|
1 | 5 | 112839729 | stop gained | G/T | snv | 0.700 | 1.000 | 5 | 1992 | 2015 | |||||||
|
1 | 5 | 112839726 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1994 | 2014 | |||||||
|
1 | 5 | 112839510 | stop gained | G/A;T | snv | 0.700 | 1.000 | 4 | 1992 | 2015 | |||||||
|
1 | 19 | 40236313 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
1 | 7 | 55160314 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 5 | 102459731 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 12433975 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1 | 12 | 109908872 | missense variant | C/T | snv | 5.6E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 5 | 112838674 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.790 | 0.970 | 33 | 2002 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.090 | 0.889 | 9 | 2003 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2005 | 2014 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 13 | 2004 | 2016 | ||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2002 | 2011 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 3 | 2014 | 2016 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2004 | 2016 |