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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 2 | 233728923 | intron variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233757815 | intron variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233746657 | intron variant | G/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233741547 | non coding transcript exon variant | T/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233741958 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233738832 | intron variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233736540 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233729603 | synonymous variant | A/G | snv | 0.49 | 0.54 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 2 | 233749470 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 233743701 | non coding transcript exon variant | C/A;G;T | snv | 4.0E-06; 0.22; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233744071 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233744538 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233744546 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 2 | 233757136 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 2 | 233755414 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
8 | 0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 2 | 233756119 | non coding transcript exon variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233755708 | non coding transcript exon variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233691628 | 5 prime UTR variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233691295 | 3 prime UTR variant | C/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233692353 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233697189 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233702266 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
9 | 0.925 | 0.040 | 2 | 233702448 | intron variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 |