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 | 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 | ||||
|
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 | ||||||||
|
7 | 0.790 | 0.240 | 10 | 43114547 | synonymous variant | G/A | snv | 0.700 | 0 | ||||||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.020 | 1.000 | 2 | 2004 | 2011 | ||||
|
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 | |||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 |