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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 7 | 152678103 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2008 | 2015 | |||||
|
2 | 1.000 | 0.080 | 2 | 201284973 | synonymous variant | G/A | snv | 9.5E-02 | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.080 | 3 | 60210809 | intron variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 17 | 58277848 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.120 | 18 | 52259936 | intergenic variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 18 | 63319316 | 5 prime UTR variant | C/G | snv | 0.98 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 12 | 9669791 | missense variant | C/G;T | snv | 0.14; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 18 | 63476675 | upstream gene variant | T/C | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 14 | 23309489 | 3 prime UTR variant | A/G | snv | 0.93 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 7 | 157529938 | downstream gene variant | G/A | snv | 0.96 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 6 | 105082089 | 3 prime UTR variant | T/A | snv | 0.82 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 1 | 225831952 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 13 | 48477345 | intron variant | T/A | snv | 0.24 | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 19 | 30454165 | intron variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 12 | 12720299 | intron variant | G/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 7 | 127901009 | intron variant | A/G | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 12 | 753860 | missense variant | C/T | snv | 6.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 17 | 7674959 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 10 | 113099704 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 3 | 39098828 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 7 | 127717662 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 18 | 63480916 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 8 | 120798309 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 16 | 78099774 | 5 prime UTR variant | C/T | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.200 | 11 | 122155752 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |