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 | 1 | 154447416 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1 | 159700355 | downstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 232383404 | regulatory region variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 2 | 64980940 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 3 | 46342713 | intergenic variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 24883579 | intron variant | C/T | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 1.000 | 0.080 | 3 | 42864624 | missense variant | T/C | snv | 5.1E-02 | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 3 | 132619502 | missense variant | T/C;G | snv | 8.6E-06; 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 117682524 | intron variant | A/G | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
7 | 3 | 16901018 | intron variant | A/C | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 145391948 | intergenic variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 4 | 73838282 | 3 prime UTR variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 73984932 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 1.000 | 0.120 | 4 | 76499631 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 4 | 90607776 | intron variant | A/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 4 | 88242371 | intergenic variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1.000 | 0.040 | 4 | 186236880 | missense variant | G/A;C | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 4 | 88285078 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 5 | 106942471 | intron variant | T/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 5 | 177415473 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 |