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 | 0.040 | 14 | 21024070 | 5 prime UTR variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 22 | 19174422 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 12 | 96009421 | non coding transcript exon variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
9 | 0.851 | 0.240 | 17 | 61388336 | non coding transcript exon variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 8 | 9323885 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 5 | 177415473 | intron variant | T/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 5 | 14867839 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 4 | 88242371 | intergenic variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1.000 | 0.040 | 4 | 186236880 | missense variant | G/A;C | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 12 | 46808031 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
18 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 14 | 103542083 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 15 | 45354085 | downstream gene variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 10 | 97599655 | non coding transcript exon variant | C/T | snv | 0.14 | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 16 | 69945368 | downstream gene variant | C/T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 70345014 | intron variant | C/T | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 4 | 88301675 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 16 | 72045758 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 95921017 | intron variant | C/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 7 | 44216044 | downstream gene variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 4 | 88285078 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 210779923 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 12 | 77508538 | intron variant | T/C | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 22 | 18902454 | upstream gene variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |