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 | 5 | 10624754 | missense variant | T/G | snv | 0.18 | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 7 | 113142501 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 3 | 128587914 | regulatory region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 3 | 3111655 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 2 | 96535945 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 21 | 33060745 | intron variant | G/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 111090753 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 41905116 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 90659273 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 90004338 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 103316504 | regulatory region variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 116868761 | intergenic variant | G/A | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 157664393 | intergenic variant | C/T | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 124813204 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 150052058 | intergenic variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 55180855 | intergenic variant | T/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 43866494 | intergenic variant | T/A | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 128993202 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 8735729 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 309127 | missense variant | A/C;G;T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 6532544 | 3 prime UTR variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 26320235 | missense variant | A/G | snv | 0.67 | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 12 | 89436943 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 24924339 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 63841301 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 |