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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.040 | 17 | 10127866 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 6 | 2014 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 1548134 | intergenic variant | A/G | snv | 0.31 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
3 | 0.925 | 0.040 | 3 | 186413811 | intergenic variant | T/A;G | snv | 0.51 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
3 | 1.000 | 0.080 | 5 | 72400091 | regulatory region variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 7 | 116511284 | downstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 165745179 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 120469674 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
5 | 2 | 43237679 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 6 | 597203 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 2 | 152508013 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||
|
1 | 2 | 44930414 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
5 | 0.851 | 0.040 | 9 | 104933567 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||
|
1 | 7 | 81209661 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||||
|
1 | 16 | 89752083 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 2 | 217802649 | 3 prime UTR variant | T/A;C;G | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||
|
1 | 11 | 16989629 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 2 | 55816667 | intergenic variant | C/G | snv | 0.55 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 15 | 61659036 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 20 | 39910126 | regulatory region variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||||
|
1 | 2 | 69184385 | intron variant | A/C | snv | 0.51 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
4 | 0.925 | 0.040 | 1 | 165749742 | intron variant | C/A | snv | 0.88 | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 8 | 6502768 | 3 prime UTR variant | G/T | snv | 2.7E-02 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||||
|
1 | 3 | 172271486 | intron variant | T/G | snv | 0.22 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 11 | 128510847 | intron variant | C/A | snv | 0.70 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 136153656 | intron variant | T/A | snv | 0.39 | 0.700 | 1.000 | 3 | 2018 | 2018 |