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 | 1 | 203682799 | 5 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1 | 1 | 203685993 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
1 | 1 | 203681658 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 203681817 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 203681850 | intron variant | C/T | snv | 0.83 | 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 | 203682696 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 203683316 | synonymous variant | A/G | snv | 0.88 | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 203682912 | 5 prime UTR variant | T/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203683012 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 203698281 | synonymous variant | T/A;C | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203688621 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 203687102 | intron variant | G/T | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203683570 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1.000 | 0.040 | 1 | 203691653 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 203686657 | intron variant | T/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203689343 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 203689654 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203691710 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 203685610 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 203685644 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 203685723 | intron variant | T/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203685440 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 203685915 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |