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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.100 | 0.900 | 10 | 2008 | 2019 | |||||
|
5 | 0.851 | 0.040 | 8 | 32595840 | missense variant | G/A | snv | 0.40 | 0.31 | 0.090 | 0.667 | 9 | 2003 | 2016 | |||
|
3 | 0.925 | 0.040 | 8 | 32756465 | missense variant | T/C | snv | 0.13 | 0.13 | 0.030 | 1.000 | 3 | 2011 | 2018 | |||
|
2 | 0.925 | 0.040 | 8 | 32665107 | intron variant | G/T | snv | 4.8E-02 | 0.030 | 0.333 | 3 | 2003 | 2014 | ||||
|
1 | 1.000 | 0.040 | 8 | 32089718 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 31642748 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.040 | 8 | 32645107 | intron variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 31810888 | intron variant | A/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 31639995 | missense variant | G/A;C;T | snv | 2.9E-04; 1.2E-03; 1.5E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 8 | 32731600 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 8 | 32547111 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 8 | 32571241 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 8 | 32750356 | intron variant | T/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 32644468 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 31672512 | intron variant | T/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 8 | 32757580 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 32688398 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 8 | 32754452 | missense variant | G/A;T | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 32673773 | intron variant | G/A | snv | 0.80 | 0.010 | < 0.001 | 1 | 2013 | 2013 |