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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 25 | 1994 | 2014 | ||||
|
5 | 0.827 | 0.120 | 10 | 43114489 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 11 | 1995 | 2015 | |||||
|
7 | 0.807 | 0.120 | 10 | 43114598 | missense variant | G/C;T | snv | 2.4E-05 | 0.700 | 1.000 | 9 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.120 | 10 | 43113629 | missense variant | C/G;T | snv | 0.700 | 1.000 | 6 | 1993 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 43114496 | missense variant | GCTGT/CGTGC | mnv | 0.700 | 1.000 | 3 | 1993 | 1996 | |||||
|
1 | 1.000 | 0.120 | 10 | 43114598 | protein altering variant | G/TTCT | delins | 0.700 | 1.000 | 3 | 2005 | 2017 | |||||
|
5 | 0.851 | 0.120 | 10 | 43114596 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2011 | ||||
|
2 | 1.000 | 0.120 | 10 | 43120184 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 43113650 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 1998 | 2004 | |||||
|
3 | 0.882 | 0.120 | 10 | 43121950 | missense variant | G/A;C;T | snv | 8.0E-06; 2.0E-05 | 0.700 | 1.000 | 2 | 2004 | 2007 | ||||
|
4 | 0.851 | 0.120 | 10 | 43120129 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 10 | 43112121 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 10 | 43112120 | missense variant | GC/CT | mnv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 10 | 43114506 | protein altering variant | A/GACCTGTGCCGCC | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 10 | 43120162 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 26 | 1993 | 2016 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 19 | 1993 | 2011 | |||||
|
7 | 0.807 | 0.160 | 10 | 43118458 | missense variant | G/C;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 12 | 1998 | 2013 | ||||
|
5 | 0.827 | 0.160 | 10 | 43121967 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1994 | 2019 | |||||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.710 | 1.000 | 10 | 1994 | 2016 | ||||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 1995 | 2008 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 1996 | 2011 | |||||
|
5 | 0.827 | 0.160 | 10 | 43113627 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 8 | 1996 | 2009 | |||||
|
11 | 0.742 | 0.160 | 10 | 43114488 | missense variant | T/C | snv | 0.700 | 1.000 | 8 | 1997 | 2015 | |||||
|
6 | 0.827 | 0.160 | 10 | 43113656 | missense variant | C/G;T | snv | 1.6E-05 | 0.700 | 1.000 | 6 | 1997 | 2011 |