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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 9 | 115094539 | intron variant | A/T | snv | 2.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 2 | 184936178 | missense variant | A/T | snv | 0.66 | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.040 | 5 | 5297087 | intron variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 20 | 41197420 | intron variant | A/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 5 | 79762819 | non coding transcript exon variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.040 | 18 | 53228263 | intron variant | A/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.040 | 12 | 26124961 | 5 prime UTR variant | ACACGCACAC/-;ACACGCACACACACGCACAC | delins | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.040 | 1 | 110479338 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 12 | 132618851 | missense variant | C/A | snv | 9.6E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.160 | 6 | 28329086 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 115851928 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 0.333 | 3 | 2007 | 2016 | ||||
|
9 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2017 | |||||
|
3 | 0.925 | 0.040 | 8 | 10307685 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 5 | 45757459 | intergenic variant | C/A;T | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 4 | 155208030 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.050 | 1.000 | 5 | 2009 | 2017 | ||||
|
4 | 0.925 | 0.040 | 11 | 27672444 | intron variant | C/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 17 | 76467306 | intron variant | C/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 15 | 88184105 | intron variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 8 | 6874007 | intron variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2003 | 2003 |