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 | 11 | 17394412 | intron variant | C/G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 11 | 17395852 | stop gained | C/A;T | snv | 1.5E-05 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 17398344 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 17407058 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 17397014 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 17406942 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 11 | 17461713 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 11 | 17461820 | stop gained | -/T | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 11 | 17393125 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
1 | 1.000 | 0.120 | 11 | 17442814 | stop gained | G/A;C | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 11 | 17395230 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17404544 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 17430839 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 17461710 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 11 | 17395611 | stop gained | G/A | snv | 1.3E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 17407417 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.160 | 11 | 17412716 | stop gained | G/A | snv | 6.1E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 17448563 | stop gained | -/GAGCTGATTGGTGTCGATGGCAACCAGATTA | delins | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 17474956 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.800 | 1.000 | 30 | 1996 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 17402671 | missense variant | G/A | snv | 5.6E-05 | 3.5E-05 | 0.800 | 1.000 | 29 | 1996 | 2016 | |||
|
3 | 0.882 | 0.120 | 11 | 17395172 | missense variant | C/T | snv | 2.2E-05 | 7.0E-06 | 0.800 | 1.000 | 28 | 1996 | 2018 | |||
|
3 | 0.925 | 0.160 | 11 | 17395659 | missense variant | G/A | snv | 0.800 | 1.000 | 27 | 1996 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 17476715 | missense variant | A/T | snv | 5.8E-05 | 3.5E-05 | 0.800 | 1.000 | 26 | 1996 | 2016 | |||
|
5 | 0.827 | 0.160 | 11 | 17394379 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 25 | 1996 | 2015 | ||||
|
6 | 0.807 | 0.160 | 11 | 17474955 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 25 | 1996 | 2016 |