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 | 7 | 25982794 | intergenic variant | A/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 120982457 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 12 | 120982460 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 2 | 191192680 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 16178825 | intergenic variant | A/G | snv | 0.47 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
1 | 5 | 52897294 | intron variant | A/G | snv | 6.6E-02 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||||
|
6 | 0.925 | 0.160 | 22 | 24594246 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||
|
3 | 14 | 103106478 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
4 | 1.000 | 0.080 | 12 | 112927816 | intron variant | A/G | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 12 | 24965415 | downstream gene variant | A/G | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.925 | 0.120 | 7 | 73563568 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 10 | 77928450 | non coding transcript exon variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 24599701 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 4 | 145866089 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 4 | 3445156 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 149469140 | upstream gene variant | A/G | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 31020414 | intergenic variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 15 | 39640771 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 73628284 | upstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 111141654 | intron variant | A/G;T | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 14 | 103108733 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 77920676 | intron variant | A/G;T | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 |