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 | 5 | 96416081 | missense variant | T/C | snv | 3.9E-02 | 3.2E-02 | 0.100 | 1.000 | 13 | 2006 | 2019 | |||
|
2 | 1.000 | 0.080 | 18 | 60372245 | stop gained | G/T | snv | 6.8E-05 | 1.3E-04 | 0.700 | 1.000 | 11 | 1999 | 2011 | |||
|
1 | 1.000 | 0.080 | 18 | 60371856 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 8 | 2000 | 2014 | |||
|
3 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 2003 | 2015 | |||
|
2 | 0.925 | 0.080 | 18 | 12274105 | missense variant | G/A;C;T | snv | 1.2E-05; 0.37 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
2 | 1.000 | 0.080 | 7 | 80672184 | intron variant | G/A | snv | 6.7E-02 | 0.040 | 1.000 | 4 | 2010 | 2018 | ||||
|
6 | 1.000 | 0.080 | 2 | 638144 | regulatory region variant | G/T | snv | 0.82 | 0.730 | 1.000 | 4 | 2009 | 2018 | ||||
|
6 | 1.000 | 0.080 | 16 | 53791576 | intron variant | C/T | snv | 0.34 | 0.810 | 1.000 | 4 | 2009 | 2017 | ||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.720 | 0.667 | 3 | 2009 | 2013 | ||||
|
3 | 0.925 | 0.080 | 2 | 25161179 | missense variant | G/C | snv | 2.7E-03 | 2.8E-03 | 0.030 | 1.000 | 3 | 2002 | 2016 | |||
|
1 | 1.000 | 0.080 | 7 | 128254568 | missense variant | C/A;T | snv | 2.0E-05; 1.8E-03 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 16 | 54286285 | 5 prime UTR variant | G/T | snv | 0.28 | 0.030 | 1.000 | 3 | 2016 | 2020 | ||||
|
2 | 1.000 | 0.080 | 6 | 22078386 | intron variant | G/A | snv | 0.64 | 0.720 | 1.000 | 3 | 2009 | 2013 | ||||
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
7 | 1.000 | 0.080 | 18 | 60172536 | intergenic variant | C/A | snv | 0.26 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 128723233 | missense variant | G/A | snv | 0.20 | 0.18 | 0.030 | 1.000 | 3 | 2008 | 2018 | |||
|
2 | 1.000 | 0.080 | 10 | 16257952 | intergenic variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2009 | 2013 | |||||
|
3 | 1.000 | 0.080 | 16 | 53771295 | intron variant | C/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
6 | 1.000 | 0.080 | 19 | 33831232 | intergenic variant | A/C;G;T | snv | 0.65 | 0.020 | 0.500 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.080 | 5 | 71719903 | missense variant | G/C | snv | 1.3E-04 | 6.3E-05 | 0.720 | 1.000 | 2 | 2006 | 2006 | |||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 79648854 | regulatory region variant | T/C | snv | 0.44 | 0.810 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 53837894 | intron variant | T/G | snv | 0.27 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.080 | 9 | 104928428 | intron variant | C/G | snv | 0.47 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 16 | 28496323 | missense variant | C/G | snv | 0.36 | 0.40 | 0.020 | 0.500 | 2 | 2013 | 2015 |