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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 8 | 42369855 | missense variant | A/G | snv | 4.4E-06 | 0.030 | 1.000 | 3 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 | 0.710 | 1.000 | 3 | 2010 | 2019 | ||||
|
2 | 0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 | 0.710 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 72989536 | intergenic variant | C/T | snv | 0.35 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 126999692 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.080 | 8 | 142682129 | synonymous variant | C/A | snv | 0.45 | 0.44 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
3 | 0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
2 | 0.925 | 0.080 | 3 | 170412314 | intron variant | C/A | snv | 0.41 | 0.700 | 1.000 | 2 | 2011 | 2018 | ||||
|
3 | 0.925 | 0.080 | 6 | 42960723 | upstream gene variant | C/G;T | snv | 0.39 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
2 | 0.925 | 0.080 | 8 | 26034626 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 113936459 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 8 | 127119564 | intron variant | G/A | snv | 1.0E-02 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 17 | 49267824 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.080 | 8 | 23682904 | 5 prime UTR variant | C/T | snv | 0.72 | 0.72 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
2 | 0.925 | 0.080 | 2 | 9977740 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
5 | 0.851 | 0.080 | 17 | 12992957 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-04 | 0.020 | 1.000 | 2 | 2005 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 20954872 | intron variant | A/G | snv | 0.81 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 154861707 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.882 | 0.080 | 11 | 69167951 | intron variant | G/A | snv | 0.22 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
2 | 0.925 | 0.080 | 12 | 114247766 | intergenic variant | A/G | snv | 0.63 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.925 | 0.080 | 1 | 182569343 | downstream gene variant | C/T | snv | 0.24 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.080 | 17 | 13000197 | frameshift variant | T/- | del | 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2008 | ||||
|
5 | 0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 1997 | 2007 | |||||
|
2 | 0.925 | 0.080 | 17 | 7674863 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2013 |