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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 9 | 2011 | 2019 | ||||
|
6 | 5 | 158418394 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 6 | 2011 | 2018 | |||||||
|
6 | 12 | 115114632 | intergenic variant | A/G | snv | 0.38 | 0.700 | 1.000 | 6 | 2011 | 2019 | ||||||
|
9 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.700 | 1.000 | 5 | 2011 | 2018 | ||||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 5 | 2011 | 2018 | ||||||
|
5 | 6 | 126794309 | intron variant | C/G;T | snv | 0.36 | 0.700 | 1.000 | 4 | 2013 | 2018 | ||||||
|
5 | 2 | 164050310 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 4 | 2011 | 2018 | ||||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
6 | 3 | 27521497 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
9 | 1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
8 | 0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2014 | 2019 | |||||
|
5 | 5 | 32804422 | intergenic variant | T/C | snv | 0.57 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||||
|
4 | 2 | 164106976 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
4 | 1.000 | 0.080 | 7 | 106771412 | upstream gene variant | T/C | snv | 0.17 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
6 | 20 | 10985350 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
15 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
5 | 12 | 115115073 | intergenic variant | G/C | snv | 0.40 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
5 | 20 | 10986566 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
2 | 5 | 115054424 | regulatory region variant | C/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 16 | 74138074 | intron variant | C/G;T | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 11 | 17383292 | non coding transcript exon variant | G/A | snv | 0.71 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 12 | 105478136 | regulatory region variant | A/T | snv | 3.3E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 41399621 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 10 | 100844757 | intergenic variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 2 | 2017 | 2019 |