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 | 3 | 148905181 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | X | 134693838 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 8 | 41675996 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 3 | 157077679 | upstream gene variant | A/G | snv | 0.46 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 22 | 29072468 | upstream gene variant | C/T | snv | 0.65 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 7 | 44206672 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 6 | 130024690 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 21 | 14966851 | missense variant | G/C | snv | 7.9E-02 | 7.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 3 | 46899626 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 7 | 44192179 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 20 | 10678234 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 1 | 212116634 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 10 | 114029616 | intergenic variant | C/T | snv | 0.69 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 1 | 161675081 | non coding transcript exon variant | A/C | snv | 0.16 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 5 | 57795956 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 3 | 123377973 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1 | 16 | 19981674 | intergenic variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 40530479 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 31416745 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 226154745 | TF binding site variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 70468521 | intergenic variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 47236139 | intergenic variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 45856005 | downstream gene variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 8 | 119583783 | missense variant | A/G;T | snv | 0.96 | 0.700 | 1.000 | 1 | 2019 | 2019 |