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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.240 | 17 | 39781794 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 11 | 36343703 | intron variant | G/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 236296485 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.160 | 10 | 62631615 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 95270099 | intergenic variant | C/G | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 1 | 172731728 | intergenic variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 30202733 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 12 | 71139430 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 33066047 | non coding transcript exon variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 4 | 22794376 | intron variant | G/A | snv | 7.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 5 | 132770006 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 92624756 | intron variant | -/CTCT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 3 | 128194003 | intron variant | -/T | ins | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 31335547 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.827 | 0.120 | 17 | 40422984 | intergenic variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 17 | 39908718 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 9 | 137605991 | intron variant | G/A | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 20 | 46719767 | intron variant | C/A | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.080 | 19 | 33235672 | TF binding site variant | C/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 1 | 152468890 | intergenic variant | T/C | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |