Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 22 | 29990369 | non coding transcript exon variant | C/T | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 22 | 29990369 | non coding transcript exon variant | C/T | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29896823 | intron variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 22 | 30020538 | missense variant | A/G;T | snv | 5.8E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
22 | 30008007 | synonymous variant | C/T | snv | 0.27 | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
22 | 29963421 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.280 | 22 | 30027471 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
22 | 29969791 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 22 | 30005238 | non coding transcript exon variant | A/G | snv | 9.4E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 22 | 29965892 | intron variant | G/A;C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 22 | 29944367 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 22 | 29946202 | intron variant | A/G | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29884173 | intron variant | A/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29981013 | non coding transcript exon variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 30004712 | non coding transcript exon variant | G/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29947197 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 22 | 30009994 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 22 | 30011375 | non coding transcript exon variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 30016476 | non coding transcript exon variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 30025077 | non coding transcript exon variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29927101 | intron variant | G/A | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29993857 | non coding transcript exon variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 22 | 29997514 | non coding transcript exon variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |