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 | 14 | 23422291 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05 | 0.700 | 1.000 | 7 | 2008 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23415210 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23424854 | missense variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2017 | |||
|
1 | 1.000 | 0.080 | 14 | 23425792 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23427714 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23417556 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23431641 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2016 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23427855 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425991 | missense variant | C/A;T | snv | 1.4E-05 | 0.700 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23431473 | missense variant | G/T | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23427672 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425294 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23419949 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 23426809 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23429308 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 14 | 23424817 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23416211 | inframe deletion | CTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23427846 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23424044 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 23424840 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 16 | 1995 | 2018 | |||
|
2 | 0.925 | 0.080 | 14 | 23415652 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.080 | 14 | 23426045 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 8 | 2003 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 23422292 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2008 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 23422267 | missense variant | C/T | snv | 6.4E-05 | 7.7E-05 | 0.700 | 1.000 | 7 | 2004 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 23426046 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 1999 | 2017 |