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 | 5 | 96793809 | synonymous variant | A/G;T | snv | 0.72; 1.2E-05 | 0.890 | 1.000 | 10 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 96758990 | intron variant | T/G | snv | 0.72 | 0.760 | 1.000 | 7 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 96762191 | 3 prime UTR variant | T/G | snv | 0.36 | 0.030 | 0.667 | 3 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 80028675 | intron variant | C/G;T | snv | 0.820 | 1.000 | 3 | 2010 | 2016 | |||||
|
2 | 1.000 | 0.040 | 5 | 40490688 | intron variant | G/A | snv | 0.56 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 35881341 | downstream gene variant | G/A | snv | 0.20 | 0.710 | 0.500 | 2 | 2013 | 2016 | ||||
|
2 | 1.000 | 0.040 | 12 | 45381125 | intron variant | A/G | snv | 7.9E-02 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.040 | 2 | 112782600 | intron variant | C/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 21 | 39093252 | intergenic variant | G/A | snv | 0.46 | 0.810 | 1.000 | 2 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 14705556 | 3 prime UTR variant | T/C | snv | 0.72 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 96777250 | intron variant | A/G | snv | 0.82 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 14722332 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 96790605 | missense variant | A/G;T | snv | 0.62 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 96762510 | 3 prime UTR variant | G/A | snv | 0.36 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 136380842 | missense variant | G/A;C | snv | 0.43 | 0.42 | 0.020 | 1.000 | 2 | 2010 | 2016 | |||
|
2 | 0.925 | 0.040 | 6 | 31398010 | upstream gene variant | G/A | snv | 3.1E-02 | 0.810 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 80025321 | intron variant | T/A | snv | 0.59 | 0.810 | 1.000 | 2 | 2011 | 2018 | ||||
|
2 | 1.000 | 0.040 | 5 | 83877774 | upstream gene variant | C/T | snv | 0.75 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 96785702 | non coding transcript exon variant | A/G | snv | 0.22 | 0.020 | 0.500 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 208349547 | intron variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 5556786 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 8 | 24259209 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 61378479 | intron variant | T/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | X | 47583421 | synonymous variant | C/A | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |