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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 7 | 96089185 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.040 | 4 | 87975555 | non coding transcript exon variant | -/G | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 15 | 74325252 | intron variant | T/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 22 | 41238083 | frameshift variant | -/GCCCGCGC | delins | 4.8E-03 | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 20 | 35371345 | intron variant | T/-;TT;TTT;TTTT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 8 | 129756257 | intron variant | -/A;AA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 15 | 67078107 | intron variant | G/A | snv | 0.45 | 0.040 | 0.750 | 4 | 2010 | 2018 | ||||
|
17 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 0.040 | 1.000 | 4 | 2007 | 2014 | ||||
|
9 | 0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 | 0.030 | 1.000 | 3 | 2006 | 2012 | |||
|
4 | 0.851 | 0.080 | 3 | 52694788 | 3 prime UTR variant | C/T | snv | 0.38 | 0.33 | 0.710 | 1.000 | 3 | 2015 | 2019 | |||
|
14 | 0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 | 0.030 | 1.000 | 3 | 2004 | 2009 | ||||
|
2 | 0.925 | 0.040 | 6 | 75531811 | intergenic variant | C/A;T | snv | 0.12 | 0.710 | 1.000 | 3 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.040 | 12 | 27862037 | regulatory region variant | G/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 27872263 | intergenic variant | A/C | snv | 0.15 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 65556254 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.040 | 6 | 44809954 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
5 | 0.882 | 0.080 | 12 | 47976052 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
2 | 1.000 | 0.040 | 6 | 75454873 | intron variant | C/A | snv | 7.3E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 102890921 | intron variant | C/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
7 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.040 | 15 | 67078168 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.040 | 17 | 69507360 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 219570796 | intergenic variant | C/A | snv | 0.23 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.040 | 19 | 55368304 | missense variant | C/T | snv | 2.1E-02 | 1.8E-02 | 0.710 | 1.000 | 2 | 2018 | 2019 |