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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.618 | 0.571 | 2 | 191099907 | intron variant | T/G | snp | 0.79 | 0.860 | 0.833 | 8 | 2009 | 2017 | ||||
|
3 | 1.000 | 0.036 | 1 | 167451188 | intron variant | T/G | snp | 0.29 | 0.820 | 1.000 | 2 | 2010 | 2012 | ||||
|
9 | 0.769 | 0.179 | 7 | 128954129 | intergenic variant | T/C | snp | 9.6E-02 | 0.800 | 3 | 2010 | 2012 | |||||
|
3 | 0.878 | 0.143 | 2 | 191038032 | intron variant | G/A | snp | 0.24 | 0.800 | 2 | 2010 | 2012 | |||||
|
2 | 0.923 | 0.036 | 6 | 32222629 | synonymous variant | A/G | snp | 0.38 | 0.38 | 0.800 | 2 | 2010 | 2012 | ||||
|
10 | 0.756 | 0.393 | 6 | 32696074 | intergenic variant | C/A,T | snp | 0.52 | 0.800 | 2 | 2010 | 2012 | |||||
|
2 | 0.923 | 0.107 | 6 | 32701379 | intergenic variant | T/C | snp | 0.30 | 0.800 | 2 | 2010 | 2012 | |||||
|
2 | 0.923 | 0.143 | 12 | 23793212 | intron variant | C/T | snp | 7.4E-02 | 0.800 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.036 | 12 | 56124624 | 3 prime UTR variant | T/A,G | snp | 0.31 | 0.800 | 1 | 2012 | 2012 | |||||
|
4 | 0.846 | 0.250 | 16 | 85958099 | intergenic variant | A/C | snp | 0.17 | 0.800 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.036 | 5 | 151060536 | intron variant | G/A | snp | 0.10 | 0.800 | 1 | 2012 | 2012 | |||||
|
7 | 0.821 | 0.250 | 6 | 32623148 | regulatory region variant | G/A | snp | 0.24 | 0.800 | 1 | 2012 | 2012 | |||||
|
6 | 0.801 | 0.286 | 6 | 32441753 | intron variant | G/A | snp | 0.55 | 0.800 | 1 | 2012 | 2012 | |||||
|
2 | 0.923 | 0.036 | 6 | 31138491 | non coding transcript exon variant | A/C,G | snp | 8.1E-06; 0.33 | 3.2E-05; 0.37 | 0.800 | 1 | 2012 | 2012 | ||||
|
4 | 0.846 | 0.250 | 6 | 32251212 | intergenic variant | G/A | snp | 0.22 | 0.800 | 1 | 2012 | 2012 | |||||
|
3 | 0.878 | 0.143 | 6 | 33075103 | intron variant | A/G | snp | 0.18 | 0.800 | 1 | 2012 | 2012 | |||||
|
4 | 0.846 | 0.107 | 3 | 58197909 | missense variant | G/A,C | snp | 4.8E-02; 4.0E-06 | 5.1E-02 | 0.710 | 1.000 | 3 | 2014 | 2017 | |||
|
11 | 0.756 | 0.286 | 8 | 11486464 | regulatory region variant | C/T | snp | 0.25 | 0.710 | 1.000 | 2 | 2010 | 2014 | ||||
|
3 | 0.878 | 0.179 | 6 | 33107858 | intergenic variant | A/G | snp | 0.27 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.923 | 0.107 | 6 | 33107889 | intergenic variant | C/T | snp | 0.31 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.878 | 0.214 | 6 | 33088122 | intergenic variant | G/A | snp | 0.14 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.923 | 0.036 | 2 | 191057148 | intron variant | C/G | snp | 0.21 | 0.700 | 2 | 2014 | 2018 | |||||
|
7 | 0.784 | 0.143 | 2 | 191108308 | intron variant | G/A | snp | 0.72 | 0.700 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.036 | 6 | 32183445 | splice region variant | G/A | snp | 0.24 | 0.20 | 0.700 | 1 | 2010 | 2010 | ||||
|
2 | 0.923 | 0.071 | 6 | 137811379 | regulatory region variant | T/G | snp | 2.3E-02 | 0.700 | 1 | 2014 | 2014 |