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 | 4 | 37660910 | intron variant | T/A | snv | 0.99 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 20 | 23918358 | downstream gene variant | G/T | snv | 0.96 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 4 | 4677180 | intron variant | A/G | snv | 0.96 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 16 | 59753666 | intron variant | T/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
10 | 0.882 | 0.200 | 2 | 634905 | TF binding site variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.925 | 0.120 | 2 | 622827 | intergenic variant | T/A;C | snv | 0.85 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 15 | 66968834 | intergenic variant | C/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 7 | 148932667 | intergenic variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 137918536 | intron variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 15170054 | intergenic variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 552161 | intergenic variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 1.000 | 0.080 | 2 | 638144 | regulatory region variant | G/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.925 | 0.120 | 2 | 644953 | intergenic variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 18 | 23151966 | intron variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 244369912 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 6 | 34227234 | regulatory region variant | G/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 219586391 | regulatory region variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 15 | 78638715 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||||
|
6 | 4 | 144653692 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 15 | 78453001 | intron variant | T/A | snv | 0.79 | 0.700 | 1.000 | 3 | 2010 | 2010 | ||||||
|
2 | 15 | 78444251 | intron variant | T/A | snv | 0.78 | 0.700 | 1.000 | 3 | 2010 | 2010 | ||||||
|
2 | 15 | 78439466 | intron variant | T/A | snv | 0.78 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||||
|
3 | 15 | 78426557 | regulatory region variant | T/C | snv | 0.78 | 0.700 | 1.000 | 3 | 2010 | 2010 | ||||||
|
1 | 15 | 78792466 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 118988874 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2017 | 2017 |