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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 12 | 28130254 | upstream gene variant | -/T | delins | 0.58 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1 | 221030957 | regulatory region variant | A/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 6 | 34221115 | downstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 19 | 40603069 | intron variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 6 | 139950220 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 119361783 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 158523978 | intron variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 56380190 | regulatory region variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 104896266 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 18 | 55899240 | intron variant | A/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 45229181 | 3 prime UTR variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 3 | 8887207 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 56176872 | intron variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 88933016 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 62474494 | intron variant | A/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 52501410 | upstream gene variant | A/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 221457213 | regulatory region variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 125472234 | intron variant | A/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 226940103 | intron variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 128511972 | intron variant | A/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 232576992 | intron variant | A/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 24103309 | intergenic variant | A/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 63827978 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 97884061 | intron variant | A/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 |