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 | 4 | 14878321 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 56397112 | intergenic variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 3 | 2009 | 2018 | |||
|
1 | 18 | 56911251 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 5 | 88218698 | intron variant | G/T | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 62258054 | regulatory region variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 5 | 115054424 | regulatory region variant | C/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 5 | 123099932 | missense variant | G/A;T | snv | 0.17 | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 14 | 71999568 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 8 | 10660990 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 10900703 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 139763465 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 74138074 | intron variant | C/G;T | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
2 | 14 | 70414772 | intron variant | A/C | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 14 | 98122398 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 99645618 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 1748780 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 232393998 | downstream gene variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 76416170 | downstream gene variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 223171819 | intron variant | C/A;G;T | snv | 4.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 181018152 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 48610929 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 55463087 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 227010644 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 |