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 | 43613423 | intron variant | A/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 192923945 | intron variant | A/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 16 | 69515846 | regulatory region variant | A/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 2 | 172025679 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 36562023 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 226795925 | synonymous variant | A/G | snv | 2.5E-03 | 2.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 6 | 126395918 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 18328201 | intergenic variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 31347871 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 219500363 | intergenic variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 16 | 28844406 | intron variant | A/G | snv | 0.35 | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 16 | 53790314 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 75271206 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 3 | 157080943 | upstream gene variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 226241501 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 1.000 | 0.080 | 7 | 130782095 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 5 | 158574301 | intron variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 6 | 31628105 | missense variant | C/A | snv | 0.79 | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 5 | 88647802 | intron variant | C/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 153973471 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 19 | 18709498 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 18 | 43164825 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |