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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 16 | 249924 | intron variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
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 | ||||||
|
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 | ||||||
|
1 | 7 | 47594213 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | ||||||
|
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 | ||||||
|
1 | 6 | 10723216 | 5 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 177322927 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 103078059 | 3 prime UTR variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 39517277 | 3 prime UTR variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 4882928 | 3 prime UTR variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 220963330 | regulatory region variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 100147663 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 25340465 | intron variant | G/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 18938389 | synonymous variant | G/A | snv | 0.40 | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 11 | 128067871 | regulatory region variant | A/C;G | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 79377440 | upstream gene variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 |