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 | 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 | ||||||
|
5 | 6 | 135122074 | intergenic variant | A/G | snv | 0.35 | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 11 | 4374955 | upstream gene variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 5210667 | downstream gene variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 4994711 | upstream gene variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 1.000 | 0.040 | 11 | 5204405 | upstream gene variant | G/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 2 | 60413672 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 2 | 60429883 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 1.000 | 0.080 | 6 | 71067268 | intergenic variant | G/A | snv | 4.4E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 17 | 9795025 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 60423581 | intron variant | C/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 11 | 5094898 | downstream gene variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 5093962 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 2 | 60409281 | intron variant | A/G;T | snv | 0.39 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 2 | 60443342 | upstream gene variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 2 | 60441297 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 2 | 60412769 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 11 | 5205088 | splice donor variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 2 | 60422008 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
3 | 2 | 60406229 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 11 | 5105947 | downstream gene variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 5552601 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 |