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 | 11 | 5352021 | missense variant | C/T | snv | 0.24 | 0.27 | 0.800 | 1.000 | 3 | 2010 | 2012 | |||||
|
1 | 2 | 60481462 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 3 | 2007 | 2012 | ||||||
|
3 | 2 | 60410521 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
1 | 11 | 5193183 | intergenic variant | T/A | snv | 0.53 | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||||
|
2 | 2 | 60442359 | upstream gene variant | T/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
4 | 2 | 60380593 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
5 | 6 | 135122074 | intergenic variant | A/G | snv | 0.35 | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||||
|
1 | 11 | 5434699 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||||
|
3 | 2 | 60382761 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2008 | |||||||
|
3 | 2 | 60384873 | non coding transcript exon variant | C/T | snv | 0.29 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
3 | 2 | 60379872 | intron variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||||
|
2 | 2 | 60388168 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
2 | 2 | 60387893 | intron variant | A/C | snv | 0.42 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
3 | 11 | 5285279 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2008 | 2011 | |||||||
|
1 | 2 | 60500494 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 11 | 5201149 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||||
|
1 | 11 | 4932232 | intron variant | G/T | snv | 8.3E-02 | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||||
|
2 | 2 | 60402474 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
3 | 2 | 60384150 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
1 | 11 | 5239346 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||||
|
1 | 11 | 5228140 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 2 | 60502159 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 5514441 | 3 prime UTR variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 5470803 | intron variant | C/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 4374955 | upstream gene variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2008 | 2008 |