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 | 20 | 35564866 | non coding transcript exon variant | C/T | snv | 0.18 | 0.17 | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||
|
1 | 10 | 17218291 | intron variant | A/G | snv | 0.41 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
1 | 22 | 35315105 | intron variant | A/G | snv | 0.51 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
1 | 3 | 12408594 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
1 | 3 | 12587421 | non coding transcript exon variant | G/C | snv | 0.23 | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||||
|
1 | 7 | 21567665 | intron variant | C/G | snv | 0.16 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 20 | 35537447 | upstream gene variant | C/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 4 | 87238988 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 41472901 | intron variant | A/G;T | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 104888562 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 168974288 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 74480389 | 3 prime UTR variant | C/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 76038907 | intron variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 101011463 | missense variant | C/T | snv | 9.8E-02 | 9.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 2 | 21070463 | regulatory region variant | -/GA;GACTCAAAGTACACATTTCCTAGA | delins | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 23439740 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 18634724 | non coding transcript exon variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 109274623 | 3 prime UTR variant | C/G;T | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 71978873 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 45512085 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 1 | 236555320 | missense variant | T/C | snv | 0.61 | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 17 | 30305102 | intergenic variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 202811382 | intron variant | C/T | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 59318198 | intron variant | A/T | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 20075517 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |