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 | 20 | 35049257 | intron variant | T/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35155806 | intergenic variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35213480 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 34458956 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
7 | 0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 2 | 127200465 | intron variant | C/A;G | snv | 0.74 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35141639 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 20 | 35149858 | upstream gene variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35695704 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35957141 | intron variant | A/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35133117 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.925 | 0.120 | 7 | 73524914 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 20 | 34311868 | upstream gene variant | G/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 34310533 | intron variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 34289960 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127249498 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
5 | 0.925 | 0.120 | 2 | 27602848 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 2 | 127436236 | 3 prime UTR variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127576951 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
5 | 0.925 | 0.120 | 2 | 27588855 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 2 | 127360977 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35237575 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 34196688 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 2 | 127509268 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2010 | 2010 |