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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
12 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 2 | 226243730 | intergenic variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 22 | 38199404 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 28844406 | intron variant | A/G | snv | 0.35 | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 1.000 | 0.080 | 18 | 60161902 | upstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 2 | 164687940 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 635721 | intergenic variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
10 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 13 | 80384153 | intergenic variant | C/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 19 | 18709498 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 17 | 49014058 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 192923945 | intron variant | A/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 49311208 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 226795925 | synonymous variant | A/G | snv | 2.5E-03 | 2.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 16 | 53775211 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 77446790 | intron variant | G/C | snv | 1.6E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 16 | 17083253 | non coding transcript exon variant | G/A | snv | 6.4E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 1.000 | 0.080 | 2 | 164672114 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 6 | 31628105 | missense variant | C/A | snv | 0.79 | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 10 | 117018487 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 43613423 | intron variant | A/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 172025679 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 9 | 28415514 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 70626984 | regulatory region variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 |