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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 14 | 23424036 | inframe deletion | CTC/- | delins | 0.700 | 1.000 | 5 | 1998 | 2017 | |||||
|
4 | 0.882 | 0.080 | 14 | 23431426 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2017 | ||||
|
9 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 0.710 | 1.000 | 17 | 1999 | 2016 | |||
|
9 | 0.763 | 0.160 | 14 | 23426834 | missense variant | G/A;C | snv | 0.700 | 1.000 | 14 | 1999 | 2019 | |||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 10 | 1999 | 2014 | ||||
|
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 | |||
|
3 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2000 | 2017 | |||||
|
4 | 0.851 | 0.080 | 14 | 23424843 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.080 | 14 | 23432713 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 16 | 2001 | 2016 | |||
|
3 | 0.882 | 0.080 | 14 | 23432714 | missense variant | G/A;C;T | snv | 2.8E-05 | 0.700 | 1.000 | 11 | 2001 | 2017 | ||||
|
9 | 0.763 | 0.160 | 14 | 23424112 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2014 | |||
|
3 | 0.882 | 0.080 | 14 | 23418244 | missense variant | C/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||
|
3 | 0.882 | 0.080 | 14 | 23418249 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 12 | 2003 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 23425774 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 2003 | 2015 | |||||
|
4 | 0.882 | 0.080 | 14 | 23429850 | missense variant | C/G;T | snv | 0.700 | 1.000 | 9 | 2003 | 2019 | |||||
|
4 | 0.882 | 0.080 | 14 | 23431789 | missense variant | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 8 | 2003 | 2017 | ||||
|
4 | 0.851 | 0.080 | 14 | 23425403 | missense variant | C/G;T | snv | 0.700 | 1.000 | 8 | 2003 | 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 | |||
|
3 | 0.882 | 0.080 | 14 | 23430601 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 2003 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 23424893 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2017 | ||||
|
3 | 0.925 | 0.080 | 14 | 23431781 | missense variant | T/G | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 2003 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 23424047 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2003 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23426810 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2003 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425371 | missense variant | G/A;C;T | snv | 2.9E-04 | 0.700 | 1.000 | 3 | 2003 | 2012 | ||||
|
3 | 0.882 | 0.080 | 14 | 23424842 | missense variant | C/T | snv | 2.4E-05 | 9.1E-05 | 0.700 | 1.000 | 16 | 2004 | 2019 |