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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 6 | 139514552 | intron variant | C/T | snv | 0.51 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
13 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 5 | 119269328 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 14 | 72996771 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 6 | 109305762 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 12937794 | upstream gene variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 129591389 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 4757649 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 64467594 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 14 | 74980176 | regulatory region variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 14 | 100134466 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 151515219 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 2 | 110852366 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 144425390 | intron variant | C/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 47594213 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 8 | 97627834 | upstream gene variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 32581163 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 13 | 47931358 | non coding transcript exon variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 17999765 | 3 prime UTR variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 19 | 35281568 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 19 | 4061546 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 18526808 | upstream gene variant | C/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 16133416 | 3 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 15 | 93027556 | 3 prime UTR variant | G/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 111137788 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 |