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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.900 | 10 | 2005 | 2018 | |||
|
16 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 22 | 28800769 | non coding transcript exon variant | G/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.160 | 10 | 6056861 | intron variant | T/C | snv | 0.48 | 0.810 | 1.000 | 5 | 2010 | 2016 | ||||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.810 | 1.000 | 4 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.160 | 22 | 37185445 | missense variant | C/A;G | snv | 0.43 | 0.800 | 1.000 | 4 | 2010 | 2016 | ||||
|
3 | 0.925 | 0.040 | 14 | 24632954 | missense variant | C/T | snv | 0.76 | 0.72 | 0.810 | 1.000 | 4 | 2010 | 2018 | |||
|
7 | 0.851 | 0.160 | 11 | 89277878 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
5 | 0.851 | 0.040 | 6 | 31291060 | intron variant | G/A | snv | 0.44 | 0.820 | 1.000 | 3 | 2010 | 2012 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
4 | 0.851 | 0.040 | 6 | 31869289 | intron variant | C/T | snv | 2.9E-02 | 4.5E-02 | 0.810 | 0.500 | 2 | 2010 | 2013 | |||
|
2 | 1.000 | 0.040 | 3 | 188371466 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 2 | 2010 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 168540944 | intron variant | G/A;C | snv | 0.810 | 0.500 | 2 | 2010 | 2011 | |||||
|
5 | 0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 8466082 | intron variant | G/A | snv | 0.68 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
3 | 0.882 | 0.120 | 6 | 32610275 | intergenic variant | G/A | snv | 0.43 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 167092303 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30438979 | intergenic variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 10 | 79256139 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30103983 | non coding transcript exon variant | T/C | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30461256 | intergenic variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 30211411 | intron variant | G/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 |