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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 10 | 100216744 | intron variant | G/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 10042563 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.925 | 0.080 | 2 | 10046292 | missense variant | A/G;T | snv | 9.3E-02 | 0.060 | 0.833 | 6 | 2005 | 2009 | ||||
|
4 | 0.882 | 0.080 | 2 | 10047996 | missense variant | C/G;T | snv | 4.0E-06; 3.3E-03 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
4 | 0.882 | 0.080 | 2 | 10048376 | missense variant | G/T | snv | 1.3E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | X | 100594020 | synonymous variant | G/A | snv | 0.40 | 0.39 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | X | 100594054 | intron variant | T/C | snv | 0.41 | 0.39 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | X | 100598284 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 7 | 100722313 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.160 | 7 | 100723905 | downstream gene variant | G/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.827 | 0.240 | 14 | 100853087 | non coding transcript exon variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 3 | 100894935 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.200 | 7 | 101128436 | missense variant | G/A | snv | 9.5E-02 | 8.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 101139202 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 101264707 | intergenic variant | T/C | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 101272565 | upstream gene variant | C/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 15 | 101446425 | intron variant | G/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 101699471 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 101708862 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 10182225 | intron variant | C/A;T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 101827580 | intron variant | C/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 15 | 101854599 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 19 | 10194877 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 13 | 102066314 | intron variant | A/G | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |