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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 2 | 48419260 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 5 | 89813933 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | X | 110576840 | intergenic variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
13 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 17 | 7642403 | upstream gene variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 107003753 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 17 | 7583790 | 5 prime UTR variant | A/C;G | snv | 4.0E-06; 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 17 | 49368389 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 68726064 | intergenic variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 7 | 98364050 | intron variant | T/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 8 | 80549739 | intergenic variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.040 | 17 | 7631360 | missense variant | C/A;T | snv | 5.6E-05; 4.5E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 17 | 7514346 | non coding transcript exon variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
11 | 0.882 | 0.200 | 17 | 7634474 | downstream gene variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 10 | 63379150 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 15 | 96165062 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 24169651 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
5 | 17 | 7581494 | missense variant | G/A | snv | 5.4E-02 | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |