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 | 169303213 | non coding transcript exon variant | A/C;T | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169303215 | non coding transcript exon variant | G/A;T | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186298264 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133278537 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 169454860 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 169327626 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 169355555 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 11 | 47762062 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 4 | 186274397 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133265051 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133265724 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133261560 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 9 | 133261730 | intron variant | G/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133261737 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186199599 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
16 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 169465789 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 9 | 133270565 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 186285095 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 4 | 186277851 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
7 | 0.851 | 0.120 | 4 | 186292729 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 4 | 186301117 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 169494280 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133272620 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133272816 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |