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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 17 | 70175553 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 3 | 38633921 | intron variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 185583216 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 7 | 150951721 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 9 | 76259853 | intron variant | A/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 38316992 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 1 | 237445488 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 12 | 2679712 | missense variant | C/T | snv | 9.2E-04 | 3.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.080 | 11 | 2572015 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.120 | 3 | 38560361 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 3 | 38603951 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.080 | 21 | 17414857 | regulatory region variant | G/A | snv | 0.47 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 3 | 52452217 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 1 | 169613079 | missense variant | C/T | snv | 5.6E-02 | 5.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
13 | 0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 6 | 125769231 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |