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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv | 0.730 | 1.000 | 18 | 1994 | 2020 | |||||
|
5 | 0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.710 | 1.000 | 22 | 1996 | 2016 | |||
|
4 | 0.851 | 0.080 | 1 | 201365291 | missense variant | C/A;T | snv | 0.710 | 1.000 | 12 | 1999 | 2017 | |||||
|
5 | 0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv | 0.710 | 1.000 | 3 | 2000 | 2004 | |||||
|
4 | 0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 | 0.710 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.851 | 0.080 | 1 | 201364369 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 12 | 1996 | 2017 | ||||
|
6 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 0.700 | 1.000 | 12 | 2001 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 201359622 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 1994 | 2011 | |||||
|
4 | 0.851 | 0.080 | 1 | 201365638 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1994 | 2008 | ||||
|
4 | 0.851 | 0.080 | 1 | 201363377 | inframe deletion | CTC/- | delins | 0.700 | 1.000 | 8 | 1995 | 2012 | |||||
|
5 | 0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2013 | |||
|
4 | 0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 201365281 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 201365630 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2008 | 2009 | |||||
|
2 | 0.925 | 0.080 | 1 | 201365242 | missense variant | A/C | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 201359637 | missense variant | G/A;T | snv | 8.9E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 1 | 201365617 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 1 | 201365284 | inframe deletion | TCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 201365295 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.120 | 1 | 201365244 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.040 | 1 | 201359623 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 201359220 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 1 | 201368212 | missense variant | G/A;T | snv | 4.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 201368042 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 |