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 | 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 | |||||
|
3 | 10 | 44906863 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
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 | ||||||
|
1 | 11 | 18345583 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 11 | 19203130 | intron variant | T/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 10428441 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 12 | 52068035 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10 | 103884565 | intron variant | G/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 235748725 | intron variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 44892783 | intron variant | G/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 88708570 | intron variant | A/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 19401081 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 12 | 124824136 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 12 | 4222843 | intergenic variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 46098008 | intron variant | C/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 |