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 | 16 | 49028679 | intergenic variant | C/A | snv | 0.54 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
4 | 1.000 | 0.080 | 6 | 50877777 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 4 | 2015 | 2017 | ||||
|
8 | 0.925 | 0.120 | 2 | 622827 | intergenic variant | T/A;C | snv | 0.85 | 0.700 | 1.000 | 4 | 2010 | 2019 | ||||
|
1 | 17 | 21358248 | regulatory region variant | C/T | snv | 0.53 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
3 | 15 | 72801650 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2018 | |||||||
|
2 | 18 | 59216087 | upstream gene variant | T/G | snv | 0.18 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 3 | 49934081 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2018 | |||||
|
1 | 9 | 123343012 | regulatory region variant | G/T | snv | 0.35 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
3 | 1 | 119004219 | upstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
1 | 12 | 39036246 | intergenic variant | A/C | snv | 0.20 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 2 | 207398555 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
2 | 1 | 78212446 | intergenic variant | A/G | snv | 0.32 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
4 | 1.000 | 0.080 | 2 | 629244 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 3 | 2013 | 2019 | |||||
|
1 | 5 | 139701160 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
2 | 19 | 29795915 | regulatory region variant | T/C | snv | 0.25 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2008 | 2017 | ||||
|
1 | 12 | 67811824 | TF binding site variant | A/G | snv | 0.84 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
2 | 6 | 119892734 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
3 | 2 | 142202362 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 3 | 2010 | 2018 | ||||||
|
7 | 1.000 | 0.080 | 18 | 60172536 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||
|
5 | 0.925 | 0.160 | 2 | 24935139 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 3 | 2010 | 2019 | ||||
|
6 | 1.000 | 0.080 | 2 | 59075742 | intron variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2010 | 2019 | |||||
|
2 | 6 | 33764010 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 3 | 2015 | 2018 |