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 | 0.040 | 1 | 231827745 | intron variant | C/T | snv | 0.23 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 102279420 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 99943207 | intron variant | G/A | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 138252460 | 3 prime UTR variant | T/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 157890009 | regulatory region variant | T/A | snv | 0.32 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 5 | 175445201 | upstream gene variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 5 | 148621907 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 10 | 117261896 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 15 | 22896157 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 6 | 32058330 | missense variant | C/A;G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 8 | 142228143 | intron variant | C/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 22463293 | intron variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 14 | 54903622 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 14 | 33800515 | synonymous variant | C/A;G;T | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 14 | 33800569 | synonymous variant | C/G | snv | 0.12 | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 12 | 2212702 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 165268709 | non coding transcript exon variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 2290654 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 19523195 | 3 prime UTR variant | C/G | snv | 0.15 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 10 | 113486173 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | X | 123303197 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.040 | 2 | 102384942 | synonymous variant | C/T | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 12 | 66455628 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 7 | 158836378 | intergenic variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 |