| 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 | 205184184 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205187972 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205189055 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 205193929 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205212398 | upstream gene variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203687686 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 203687846 | intron variant | A/T | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 3854365 | intron variant | C/G;T | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 199005775 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 158601100 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 39248566 | intron variant | T/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 43800749 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 47227548 | non coding transcript exon variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 47228495 | non coding transcript exon variant | A/C;G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 199010689 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 205082583 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205114737 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205145971 | 3 prime UTR variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205149208 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205177332 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205203047 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205203973 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205208489 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 205210329 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203682696 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |