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 | 13 | 46856141 | non coding transcript exon variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 2 | 207643083 | intergenic variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 61190958 | intron variant | G/T | snv | 0.96 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 13 | 46871568 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 20135980 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 0.925 | 0.040 | 6 | 35685660 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 7 | 30655345 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 6 | 35633999 | intron variant | A/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 11 | 18047335 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2019 | |||||
|
4 | 0.882 | 0.080 | 11 | 113420866 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 8 | 27578983 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.120 | 1 | 28818676 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2018 |