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 | 11 | 132771851 | non coding transcript exon variant | T/G | snv | 0.26 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 15788110 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 6 | 32396178 | synonymous variant | T/C | snv | 0.41 | 0.39 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1 | 219519878 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 219577375 | regulatory region variant | G/T | snv | 0.23 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 3 | 52472410 | intron variant | C/T | snv | 0.96 | 0.96 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 6 | 7217284 | non coding transcript exon variant | C/T | snv | 0.10 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 127188012 | intron variant | G/A | snv | 0.56 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 4 | 26061368 | regulatory region variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 121705035 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 3 | 157079859 | upstream gene variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 119088159 | non coding transcript exon variant | G/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 142477850 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 54065146 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 173854774 | intergenic variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 46897482 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 91998083 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 8 | 71495139 | intron variant | G/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 109187808 | intron variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 106300721 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 15 | 67183150 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 42961980 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 |