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 | 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 | 5 | 10624754 | missense variant | T/G | snv | 0.18 | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 5 | 132341949 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
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 | ||||||
|
5 | 14 | 68713254 | intron variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 116868761 | intergenic variant | G/A | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 14 | 25034593 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 2 | 8299499 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 157664393 | intergenic variant | C/T | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 2 | 61476184 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 124813204 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 18 | 50621423 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 7 | 20502242 | intergenic variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 9 | 5075628 | intron variant | C/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 112967228 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1 | 199043349 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 19 | 39711776 | downstream gene variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 |