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 | 0.120 | 14 | 80984885 | intron variant | C/T | snv | 0.37 | 0.810 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.120 | 14 | 81056784 | intron variant | T/C | snv | 0.13 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 22 | 37239015 | intron variant | A/G | snv | 0.41 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 14 | 80976823 | intron variant | A/G | snv | 0.18 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 80978023 | intron variant | G/A | snv | 0.27 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 133133268 | intron variant | G/A | snv | 0.49 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.120 | 14 | 81031049 | intron variant | T/C | snv | 0.24 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 14 | 80982038 | non coding transcript exon variant | T/G | snv | 0.48 | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.120 | 14 | 81002610 | intron variant | G/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2019 | |||||
|
1 | 1.000 | 0.120 | 14 | 80990350 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 2 | 203898321 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 6 | 32826204 | 3 prime UTR variant | A/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 157671893 | downstream gene variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 7 | 107683334 | missense variant | A/C;G | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 8 | 140634077 | intron variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 160471451 | TF binding site variant | G/C | snv | 0.96 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 14 | 80902473 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 203302802 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 167017659 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 147732794 | intron variant | G/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 160495121 | intron variant | C/A;G | snv | 0.96 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 157784569 | intergenic variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 31150788 | synonymous variant | C/G | snv | 0.74 | 0.75 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 100724755 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 17 | 65208429 | intron variant | G/A | snv | 8.2E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 |