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 | 0.080 | 16 | 68812177 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68833356 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 68808493 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68822210 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 68810216 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68738324 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68828281 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 68810302 | stop gained | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 16 | 68819283 | stop gained | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 68801843 | stop gained | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 68808504 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2006 | 2019 | |||||
|
1 | 1.000 | 0.080 | 16 | 68810240 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||
|
2 | 1.000 | 0.080 | 16 | 68811859 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 1994 | 2016 | |||||
|
2 | 1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2015 | ||||
|
5 | 0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 16 | 68833344 | missense variant | G/A;C | snv | 1.7E-04; 4.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2002 | ||||
|
1 | 1.000 | 0.080 | 1 | 27358259 | missense variant | G/A;T | snv | 5.0E-03 | 4.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 16 | 68822138 | missense variant | G/A;T | snv | 3.5E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 16 | 68812244 | missense variant | C/G;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
17 | 0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 16 | 68737463 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.200 | 16 | 68823432 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 16 | 68815743 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 18 | 31546199 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |