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 | 1.000 | 0.080 | 2 | 234770601 | regulatory region variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 102359712 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 102437960 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 197994193 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102242461 | downstream gene variant | G/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 2 | 8303673 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 102408814 | upstream gene variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 198029581 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 198029561 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 197948686 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 198036840 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 197873295 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 198029415 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 197649206 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102403570 | downstream gene variant | T/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 197905015 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 102403280 | downstream gene variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 198041757 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 197941206 | intron variant | G/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 8326356 | intron variant | C/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102463056 | intergenic variant | C/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 37711608 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 |