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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 66734153 | upstream gene variant | T/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 218879152 | upstream gene variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 112519123 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 21 | 29021343 | upstream gene variant | A/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 61574921 | TF binding site variant | T/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 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 | |||
|
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 | |||
|
1 | 1.000 | 0.040 | 1 | 183937111 | 3 prime UTR variant | C/A;T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 150474986 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 19 | 41354682 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 12 | 124315096 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.160 | 2 | 113133835 | 3 prime UTR variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 6 | 33087724 | 3 prime UTR variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 0.040 | 1.000 | 4 | 2007 | 2014 | ||||
|
7 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2011 | |||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
13 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.080 | 3 | 15175196 | non coding transcript exon variant | A/G;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.807 | 0.240 | 4 | 87975269 | non coding transcript exon variant | T/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.040 | 4 | 87975555 | non coding transcript exon variant | -/G | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
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 | |||
|
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 | ||||
|
5 | 0.882 | 0.080 | 12 | 47976052 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2010 |