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 | 2 | 198085516 | missense variant | G/A | snv | 0.44 | 0.41 | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||
|
1 | 10 | 9010779 | regulatory region variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
1 | 8 | 80380364 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
1 | 4 | 38762491 | upstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 4773674 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 38783057 | upstream gene variant | C/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 111107582 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 40493132 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 40530784 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 111102658 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 111117147 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 111114886 | intron variant | T/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 40569851 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 111113658 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 40519249 | intron variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 142115369 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 40575737 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 40496849 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 6130940 | intergenic variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102433930 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102236342 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102358304 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102122325 | intron variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 102471113 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 102359712 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |