| 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 | 12 | 75115159 | intron variant | T/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 109607113 | intergenic variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 77788267 | intergenic variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 15 | 98643259 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 81251295 | intergenic variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 22551319 | downstream gene variant | C/T | snv | 0.95 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 8 | 109097622 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 15 | 88845674 | synonymous variant | C/T | snv | 3.8E-02 | 6.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 226395248 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 177099269 | downstream gene variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 11052779 | downstream gene variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 21144026 | intron variant | G/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 10606778 | intron variant | C/A | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 23664567 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 63918895 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1 | 21258448 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 10635088 | intron variant | T/A;C;G | snv | 0.73; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 185830875 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 1.000 | 0.080 | 6 | 50877777 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 12 | 56752285 | missense variant | T/G | snv | 0.12 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 5 | 83519589 | missense variant | G/A | snv | 0.15 | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 17 | 38773325 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 46595000 | intergenic variant | C/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 46336817 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 118342903 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |