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 | 17 | 4077772 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 4063297 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 22 | 29053489 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
5 | 22 | 29055683 | 3 prime UTR variant | A/G | snv | 0.41 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||||
|
1 | 22 | 28860678 | intergenic variant | G/A | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 22 | 29054935 | 3 prime UTR variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 17 | 36493030 | non coding transcript exon variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 36991915 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.925 | 0.120 | 16 | 49830880 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 16 | 49834602 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 133189536 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 133203723 | missense variant | G/A;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 35375657 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 79012834 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 79147390 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 10 | 79181660 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 10 | 79158760 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 41309482 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 134698105 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 128722247 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 133013962 | intron variant | T/G | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1 | 155018913 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 11 | 130401752 | intron variant | A/G;T | snv | 0.71 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 11 | 10899965 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 5 | 77150278 | intron variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 |