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 | 2 | 233688441 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233689021 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 1.000 | 2 | 233688675 | intron variant | A/G;T | snv | 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 | 233755414 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233688837 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233685060 | intron variant | G/A;T | snv | 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 | 233702266 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233670563 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 1.000 | 2 | 233716976 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 233695584 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
8 | 0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;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 | |||||
|
3 | 2 | 233681395 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233690345 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233681970 | synonymous variant | C/A;G;T | snv | 0.35; 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233708761 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233681881 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 233721797 | non coding transcript exon variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 2 | 233671494 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233671603 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 233673405 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 233670722 | intron variant | G/A | snv | 0.22 | 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 |