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 | 2 | 102367819 | splice region variant | T/C | snv | 0.35 | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 19 | 10284797 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 7 | 20537675 | intergenic variant | G/A | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 19308167 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 16 | 80751551 | intron variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 4 | 75251521 | regulatory region variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 27370037 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 18 | 69870115 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 150943866 | non coding transcript exon variant | A/G | snv | 0.14 | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 9 | 117704494 | missense variant | G/A;T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 12 | 52897488 | missense variant | C/A | snv | 1.1E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 4 | 128971750 | non coding transcript exon variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 58212538 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 111564549 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 11 | 65889093 | upstream gene variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 102504350 | intron variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 28413873 | 3 prime UTR variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 160884736 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 20657114 | intron variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 132134524 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 99152756 | intergenic variant | A/C | snv | 0.93 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 22 | 30090837 | intron variant | A/G | snv | 0.55 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | X | 136581905 | upstream gene variant | C/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 73991991 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 71126344 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 |