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 | 1.000 | 0.040 | 3 | 122536861 | non coding transcript exon variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 3 | 122257647 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122261437 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122274753 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122259226 | intron variant | G/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122409619 | intron variant | G/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122361900 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122318950 | downstream gene variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122311615 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122298385 | TF binding site variant | A/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122369259 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122388388 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122321763 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122499004 | intron variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122370512 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122301347 | regulatory region variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122321215 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.700 | 1.000 | 3 | 2010 | 2013 | |||
|
2 | 10 | 9286688 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 6 | 156807123 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 2 | 233356202 | intron variant | C/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.080 | 20 | 54157888 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 7 | 65806210 | downstream gene variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 13 | 41984940 | downstream gene variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 3007859 | non coding transcript exon variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 |