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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.800 | 1.000 | 8 | 2010 | 2019 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 8 | 2010 | 2019 | ||||
|
21 | 0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.800 | 1.000 | 5 | 2013 | 2019 | ||||
|
2 | 6 | 34578783 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2018 | |||||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
6 | 0.882 | 0.240 | 8 | 58476006 | intergenic variant | T/C | snv | 0.70 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||
|
20 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
2 | 20 | 17863324 | intergenic variant | C/A | snv | 0.53 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
9 | 8 | 125479491 | intron variant | G/T | snv | 0.42 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
6 | 8 | 125469505 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
3 | 1 | 109276674 | downstream gene variant | C/A;T | snv | 0.800 | 1.000 | 3 | 2014 | 2019 | |||||||
|
9 | 0.807 | 0.160 | 2 | 21063185 | intergenic variant | T/C | snv | 0.73 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||
|
2 | 1 | 234717521 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
5 | 16 | 56953457 | intergenic variant | T/C | snv | 0.26 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
4 | 2 | 21065354 | intergenic variant | G/A | snv | 0.69 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
18 | 0.851 | 0.120 | 5 | 75329662 | intron variant | C/A | snv | 0.38 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
3 | 7 | 44544952 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
2 | 1 | 92502755 | regulatory region variant | T/C | snv | 0.85 | 0.700 | 1.000 | 2 | 2015 | 2018 |