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 | 9 | 78591878 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 78582342 | intergenic variant | T/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 78582032 | intergenic variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 78580130 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 78579468 | intergenic variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 8045606 | regulatory region variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 9 | 78585841 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 78586682 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 10 | 94253948 | intron variant | G/A | snv | 0.67 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 12 | 68385633 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 14 | 73260801 | missense variant | T/C;G | snv | 3.9E-02; 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 74867092 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 74900663 | 3 prime UTR variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 74897589 | synonymous variant | A/G | snv | 0.44 | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 15 | 74863555 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 74848513 | non coding transcript exon variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 74893329 | missense variant | A/G;T | snv | 0.44; 1.2E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 74883116 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 15 | 65362570 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 15 | 74839978 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 18 | 46895257 | intron variant | A/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46943041 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46859048 | intron variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 46875910 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 47050634 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 |