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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.160 | 17 | 45641777 | non coding transcript exon variant | A/G | snv | 0.18 | 0.29 | 0.810 | 1.000 | 4 | 2009 | 2015 | |||
|
1 | 1.000 | 0.040 | 4 | 970571 | intron variant | C/T | snv | 9.3E-02 | 0.810 | 1.000 | 3 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 156060246 | upstream gene variant | C/G;T | snv | 1.5E-02 | 0.810 | 1.000 | 3 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.040 | 4 | 15736314 | intron variant | A/G | snv | 0.24 | 0.810 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 945299 | intron variant | C/T | snv | 0.28 | 0.810 | 1.000 | 3 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 101414449 | intergenic variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 1.000 | 0.040 | 21 | 15542586 | intron variant | G/A | snv | 0.48 | 0.810 | 0.500 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 106556209 | intron variant | G/A | snv | 0.46 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 | 0.800 | 1.000 | 5 | 2009 | 2014 | ||||
|
2 | 1.000 | 0.040 | 17 | 45436075 | 3 prime UTR variant | C/T | snv | 0.13 | 0.13 | 0.800 | 1.000 | 4 | 2009 | 2012 | |||
|
1 | 1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 | 0.800 | 1.000 | 4 | 2011 | 2014 | ||||
|
4 | 0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 | 0.800 | 1.000 | 4 | 2009 | 2012 | |||
|
4 | 0.925 | 0.120 | 17 | 46751565 | synonymous variant | G/A | snv | 0.13 | 0.13 | 0.800 | 1.000 | 4 | 2009 | 2012 | |||
|
1 | 1.000 | 0.040 | 4 | 89744890 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 40259708 | intron variant | G/A | snv | 2.4E-03 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.080 | 18 | 43098270 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2016 | |||||
|
3 | 1.000 | 0.040 | 17 | 46781778 | intron variant | C/T | snv | 0.84 | 0.800 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 89876150 | upstream gene variant | A/G | snv | 0.16 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 2 | 134834811 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.040 | 3 | 183042285 | intron variant | T/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 15 | 61708933 | intron variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 12 | 39959194 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 16 | 31083850 | 3 prime UTR variant | C/T | snv | 0.42 | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 18813023 | intergenic variant | C/T | snv | 0.28 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 155135691 | splice region variant | G/A;C | snv | 1.1E-02; 3.4E-05 | 0.800 | 1.000 | 1 | 2012 | 2012 |