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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 1.000 | 0.040 | 4 | 155724361 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2009 | 2018 | |||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 7 | 27249498 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 20047028 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
12 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 4 | 80246155 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 4 | 155705436 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 26689211 | upstream gene variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 3 | 169379112 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 11792053 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 15 | 74791940 | intron variant | G/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 115118002 | intergenic variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 12 | 89584456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 1 | 10736490 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 15 | 90885725 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 89717005 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
15 | 6 | 26104404 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 12 | 111762346 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 11 | 65638129 | 5 prime UTR variant | G/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 5 | 32713730 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 2 | 164195781 | intron variant | A/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 7 | 27240226 | intron variant | -/AAAACA;AACA | delins | 0.91 | 0.700 | 1.000 | 1 | 2018 | 2018 |