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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 6 | 25658944 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 6 | 109305762 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 19 | 12937794 | upstream gene variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 10 | 69340132 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 46131396 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 135190449 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 19 | 12876791 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 6 | 135167358 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 19 | 12831936 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 19 | 12847036 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 25582529 | intron variant | C/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 2 | 60410521 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 135124041 | intergenic variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 135124064 | intergenic variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 0.925 | 0.120 | 7 | 151708919 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 6 | 135108955 | regulatory region variant | G/A | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 0.040 | 6 | 25454787 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 6 | 41800772 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 41936044 | missense variant | A/C;G;T | snv | 0.54; 1.6E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 0.925 | 0.080 | 9 | 4860643 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 19 | 12663394 | missense variant | G/C | snv | 0.25 | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 6 | 135102274 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 9 | 4853751 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 19 | 12852329 | splice region variant | T/C | snv | 0.34 | 0.35 | 0.700 | 1.000 | 1 | 2009 | 2009 |