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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 2 | 112496 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 12 | 128610527 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 2 | 76794802 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 100923960 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 100971018 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 0.882 | 0.040 | 10 | 55089584 | intron variant | C/T | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 142719589 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 145271196 | downstream gene variant | C/G | snv | 7.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 14 | 82337988 | intergenic variant | C/T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 178689358 | intron variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 32487657 | intron variant | C/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 14 | 66782703 | intron variant | A/G | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 13316583 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 16 | 539359 | non coding transcript exon variant | G/A | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 27486673 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 100929083 | intron variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 100906978 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 101046740 | intergenic variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 100931463 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 100911297 | non coding transcript exon variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 101072418 | TF binding site variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 100969238 | intron variant | A/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 101050480 | regulatory region variant | C/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 4 | 152986727 | intergenic variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 6 | 151506923 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |