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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 6 | 28333322 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 58416935 | synonymous variant | T/A;C | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.120 | 4 | 10445282 | missense variant | A/G;T | snv | 0.74 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10441801 | 3 prime UTR variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10453370 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 4 | 10443026 | 3 prime UTR variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10441760 | 3 prime UTR variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10451139 | non coding transcript exon variant | G/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 6 | 43367017 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 6 | 43325892 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 53096003 | intron variant | A/T | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.120 | 1 | 35015950 | intron variant | T/C | snv | 6.2E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 10 | 79184390 | intron variant | C/G;T | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 3 | 13854632 | missense variant | C/T | snv | 1.7E-04 | 1.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 3 | 52276426 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 15 | 53705141 | missense variant | T/G | snv | 3.5E-03 | 1.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.120 | 4 | 10080532 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 4 | 10115177 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10096568 | non coding transcript exon variant | G/A;C | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10094396 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10073861 | upstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10113899 | intron variant | A/G;T | snv | 0.51 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10105467 | intron variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10100969 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 4 | 10073861 | upstream gene variant | -/AT | delins | 0.700 | 1.000 | 1 | 2009 | 2009 |