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 | 8 | 8460307 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 49634886 | downstream gene variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 127865702 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 40486025 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 15 | 53654396 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 19 | 19367068 | TF binding site variant | A/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
12 | 0.776 | 0.080 | 20 | 34625392 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 220827800 | intron variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 100286307 | intron variant | A/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 30708912 | regulatory region variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 53658381 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 53155760 | intron variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 40055130 | intron variant | A/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 169150430 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 169418126 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 53996560 | intron variant | A/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 2777574 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 133528651 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 8 | 23912105 | intergenic variant | A/C;G | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 7641066 | 5 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 5 | 39385539 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.240 | 6 | 31924707 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 18 | 79400235 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 16 | 28846324 | 5 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 89671938 | non coding transcript exon variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |