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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 39 | 1996 | 2013 | ||||
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 33 | 1997 | 2017 | |||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 1.000 | 25 | 1995 | 2018 | ||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 25 | 1999 | 2014 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.957 | 23 | 2004 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.957 | 23 | 2004 | 2019 | |||||
|
4 | 0.925 | 0.160 | 2 | 47475051 | inframe deletion | AAT/- | del | 4.0E-06 | 0.700 | 1.000 | 19 | 1996 | 2017 | ||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.720 | 0.947 | 19 | 1995 | 2014 | |||||
|
5 | 0.882 | 0.160 | 2 | 47476399 | stop gained | C/G;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 17 | 1998 | 2016 | ||||
|
5 | 0.882 | 0.200 | 3 | 37047632 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 16 | 1997 | 2018 | |||||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.700 | 1.000 | 15 | 1997 | 2013 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.720 | 1.000 | 15 | 1975 | 2017 | |||||
|
7 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 0.700 | 1.000 | 14 | 2006 | 2016 | |||||
|
8 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 0.700 | 1.000 | 14 | 1992 | 2016 | |||||
|
6 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 0.720 | 1.000 | 13 | 2001 | 2019 | ||||
|
4 | 0.925 | 0.160 | 2 | 47416351 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 2003 | 2017 | |||||
|
6 | 0.851 | 0.240 | 3 | 37048973 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 1.000 | 13 | 2002 | 2017 | ||||
|
4 | 0.925 | 0.160 | 3 | 37012099 | missense variant | G/A;T | snv | 0.700 | 1.000 | 13 | 1996 | 2016 | |||||
|
7 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 12 | 2002 | 2018 | |||||
|
6 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 0.700 | 1.000 | 12 | 2006 | 2017 | ||||
|
4 | 0.925 | 0.160 | 3 | 36993630 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1999 | 2013 | |||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.760 | 1.000 | 12 | 2004 | 2012 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 11 | 2005 | 2016 | ||||
|
5 | 0.882 | 0.160 | 3 | 37001051 | missense variant | G/A | snv | 0.700 | 1.000 | 11 | 2001 | 2015 | |||||
|
6 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.710 | 1.000 | 11 | 1994 | 2012 |