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 | ||||||
|
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 | ||||||
|
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 | ||||||
|
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 | ||||||
|
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 | ||||||
|
1 | 19 | 33435107 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 46276080 | upstream gene variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 9522081 | 3 prime UTR variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 94210156 | intron variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 48138877 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 120117008 | intergenic variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2007 | 2007 |