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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 10 | 101220399 | regulatory region variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 14 | 26807946 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 14 | 26807959 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101231902 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101222891 | downstream gene variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 129285 | intron variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 128928 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 101225650 | upstream gene variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101214115 | TF binding site variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 138468 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 142352 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 131073 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 123429 | intron variant | A/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101216904 | intergenic variant | -/T | delins | 6.6E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 16 | 30089130 | missense variant | G/A | snv | 2.2E-04 | 1.0E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 10 | 56359144 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 101214352 | TF binding site variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 136842 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101236039 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 101216249 | intergenic variant | C/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 130837 | non coding transcript exon variant | A/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101216904 | intergenic variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 125415 | intron variant | G/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 124824 | intron variant | G/A;C | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv | 0.700 | 0 |