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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 4 | 152599127 | intergenic variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 5 | 56692951 | intergenic variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 3 | 157079859 | upstream gene variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 78267439 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 36147704 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 8 | 10719265 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 14 | 64556852 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 14 | 23128526 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 50302023 | downstream gene variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 24034181 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 2 | 58770577 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 6 | 139630553 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 7 | 36415868 | synonymous variant | T/C | snv | 0.13 | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 7 | 6027315 | intron variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 151706419 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 26547477 | upstream gene variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 32581179 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
2 | 19 | 16124498 | non coding transcript exon variant | C/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 57629913 | upstream gene variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 35281568 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 19 | 18407968 | TF binding site variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 35277334 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 230280653 | 3 prime UTR variant | G/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 58581872 | non coding transcript exon variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 |