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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 0.830 | 0.800 | 5 | 2013 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 4122946 | intergenic variant | A/G | snv | 0.29 | 0.820 | 0.667 | 3 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 115134562 | regulatory region variant | T/C | snv | 0.14 | 0.720 | 1.000 | 3 | 2013 | 2018 | ||||
|
3 | 14 | 93129246 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
1 | 7 | 111688341 | intergenic variant | A/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 29372503 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.040 | 12 | 4408974 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1 | 15222140 | upstream gene variant | G/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 4414290 | intergenic variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 18 | 57511578 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 56914476 | intergenic variant | T/A;C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 15 | 69968889 | intergenic variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 156503322 | upstream gene variant | C/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | X | 40905504 | upstream gene variant | C/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 154572157 | regulatory region variant | A/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 32238272 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 4419506 | intergenic variant | C/- | delins | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 32041179 | intergenic variant | C/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 73434059 | intergenic variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 8 | 130021250 | upstream gene variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 116419515 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 73402703 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.040 | 12 | 47377646 | non coding transcript exon variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 121524892 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.040 | 10 | 29798430 | regulatory region variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2013 | 2013 |