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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
11 | 0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
13 | 0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
4 | 0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 10 | 62492218 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 10 | 3554755 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.120 | 16 | 52514125 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 14 | 70423423 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.851 | 0.080 | 12 | 115398717 | regulatory region variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 17 | 3000998 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 0.925 | 2 | 217029040 | intergenic variant | G/A | snv | 0.18 | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 16 | 68834619 | 3 prime UTR variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 16 | 67082698 | intron variant | C/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 1 | 214510163 | intron variant | A/G | snv | 1.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 5 | 158817075 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 2 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |