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 | 12 | 65138965 | downstream gene variant | A/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 43818385 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 89514850 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 224163321 | downstream gene variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 74489722 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 24916129 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 9663306 | upstream gene variant | G/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 9736166 | upstream gene variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 9757536 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 79683075 | intron variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 119024129 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 204501001 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 10 | 125820725 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 129451806 | intergenic variant | G/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 18350013 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 6504990 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 116986701 | non coding transcript exon variant | T/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 76393809 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 16 | 75568899 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 57776552 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 77011321 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 45383639 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 150724317 | upstream gene variant | GCTTCTGCA/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 8 | 10815498 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 121770148 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |