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 | 2 | 44915534 | intergenic variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 99126006 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 174668799 | intron variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 11 | 113503698 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 8 | 127636481 | non coding transcript exon variant | G/T | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 98671846 | intergenic variant | A/G | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 122667075 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 10 | 108737343 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 6 | 31500215 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.120 | 5 | 88367793 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 5 | 159315006 | 3 prime UTR variant | G/T | snv | 0.87 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 12 | 112469070 | intron variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 12 | 111398968 | intron variant | C/-;CC;CCC | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.080 | 2 | 129240870 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 2 | 102178081 | 3 prime UTR variant | C/G;T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 4 | 102616617 | 3 prime UTR variant | G/A;T | snv | 5.0E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.240 | 4 | 102607651 | splice region variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 15 | 81300440 | synonymous variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.200 | 21 | 44288394 | synonymous variant | C/T | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.827 | 0.200 | 12 | 111783222 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.080 | 2 | 226115660 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 165633833 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 20 | 38922292 | 3 prime UTR variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 |