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 | 17 | 7675084 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 16 | 82164193 | missense variant | A/T | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 7 | 41964929 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 10 | 77819464 | splice region variant | G/A | snv | 0.29 | 0.24 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 3 | 184352800 | missense variant | C/G | snv | 1.5E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 7 | 50529166 | intron variant | C/T | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 6 | 122399830 | missense variant | G/A;C | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 16 | 46674629 | missense variant | G/A | snv | 7.7E-05 | 9.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 13 | 102401633 | missense variant | A/G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 3 | 32146681 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 0.925 | 0.040 | 12 | 104321282 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 17 | 7674968 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 17 | 42820818 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 38575390 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 18 | 76984810 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 17 | 41968217 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 5 | 122425421 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.080 | 16 | 31182593 | missense variant | G/C | snv | 6.8E-05 | 3.3E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 10 | 70598372 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 21 | 26000036 | missense variant | T/C | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 4 | 147542593 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 12 | 53100807 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 41624218 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.160 | 2 | 39022938 | missense variant | C/T | snv | 5.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 6 | 79916658 | missense variant | T/C | snv | 0.17 | 0.16 | 0.010 | 1.000 | 1 | 2006 | 2006 |