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 | 80463222 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 6 | 2015 | 2019 | ||||||
|
1 | 6 | 12124622 | missense variant | G/A | snv | 0.30 | 0.26 | 0.700 | 1.000 | 6 | 2015 | 2019 | |||||
|
1 | 1 | 190270777 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||||
|
1 | 19 | 18344015 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 5 | 2015 | 2018 | ||||||
|
1 | 9 | 15634328 | intron variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2015 | 2019 | |||||||
|
1 | 9 | 109170062 | upstream gene variant | C/T | snv | 0.61 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||||
|
1 | 14 | 103683138 | non coding transcript exon variant | A/G | snv | 0.30 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||||
|
1 | 2 | 206380059 | intergenic variant | A/G | snv | 0.23 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||||
|
1 | 9 | 126698635 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||||
|
1 | 12 | 830314 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
1 | 2 | 62825913 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 16 | 337867 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
1 | 13 | 79006784 | intergenic variant | G/A | snv | 0.65 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
1 | 16 | 49028679 | intergenic variant | C/A | snv | 0.54 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 11 | 43842728 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 9 | 128280455 | intron variant | T/G | snv | 0.41 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 16 | 68348075 | intron variant | A/G | snv | 0.70 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
1 | 14 | 93323930 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 21 | 45150981 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
1 | 2 | 58708147 | intron variant | T/G | snv | 0.56 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
1 | 17 | 21358248 | regulatory region variant | C/T | snv | 0.53 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 17 | 48215561 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 1 | 49124175 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||||
|
1 | 10 | 85651147 | intron variant | A/G | snv | 6.9E-02 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
1 | 17 | 5379957 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 3 | 2015 | 2019 |