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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
6 | 0.925 | 0.120 | 6 | 25997230 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 6 | 26125114 | intron variant | C/T | snv | 0.91 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 203682799 | 5 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 22 | 37097138 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 11 | 5281833 | intron variant | G/A;T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 16 | 530124 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 22 | 37098774 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 16 | 88787321 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 158638145 | stop gained | T/A;G | snv | 4.0E-06; 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
10 | 0.851 | 0.120 | 6 | 135106006 | upstream gene variant | C/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1 | 158490185 | intron variant | C/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 87073514 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |