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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.040 | 4 | 186236880 | missense variant | G/A;C | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 4 | 186217309 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 4 | 186228386 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186257634 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186257634 | intron variant | -/TGT;TTT | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186217309 | intron variant | -/GTT | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 4 | 186232632 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186226917 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186248496 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186258649 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186224068 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186258056 | missense variant | T/C;G | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 186253529 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186240347 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 186236304 | intron variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186237768 | intron variant | G/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186226979 | intron variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186231173 | intron variant | A/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186222648 | intron variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 186234334 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186230988 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186231504 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 186243245 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186243195 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.080 | 4 | 186227233 | intron variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2012 | 2012 |