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 | 0.120 | 6 | 31425129 | intron variant | A/G | snv | 5.3E-02 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 33006624 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 48889774 | intron variant | G/A | snv | 0.54 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 31926167 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
2 | 1.000 | 0.120 | 6 | 32251066 | upstream gene variant | A/G | snv | 0.41 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 33315989 | missense variant | T/C | snv | 0.54 | 0.54 | 0.700 | 1.000 | 3 | 2007 | 2011 | |||
|
1 | 1.000 | 0.120 | 6 | 32252908 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.120 | 6 | 33009643 | upstream gene variant | G/T | snv | 0.20 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
2 | 1.000 | 0.120 | 6 | 32321541 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
2 | 1.000 | 0.120 | 6 | 32286877 | intron variant | A/G | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
2 | 0.925 | 0.120 | 1 | 116721168 | regulatory region variant | T/A;C | snv | 0.810 | 1.000 | 3 | 2013 | 2019 | |||||
|
2 | 0.925 | 0.120 | 5 | 132094425 | regulatory region variant | G/A | snv | 8.5E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 31034236 | intron variant | G/A | snv | 0.20 | 0.710 | 1.000 | 3 | 2007 | 2017 | ||||
|
2 | 0.925 | 0.120 | 6 | 32292573 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
3 | 0.882 | 0.120 | 2 | 60854407 | intron variant | C/T | snv | 0.35 | 0.720 | 0.667 | 3 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 128627057 | intron variant | C/T | snv | 0.37 | 0.810 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 58317208 | intron variant | C/T | snv | 4.3E-02 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 156939170 | intron variant | G/A | snv | 0.28 | 0.030 | 0.667 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 137906227 | upstream gene variant | T/G | snv | 3.3E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 15 | 38541832 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 31660956 | upstream gene variant | C/T | snv | 0.35 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 38151199 | intron variant | C/A | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2015 | ||||
|
2 | 1.000 | 0.120 | 6 | 32330595 | missense variant | A/G | snv | 0.42 | 0.33 | 0.700 | 1.000 | 3 | 2007 | 2009 | |||
|
1 | 1.000 | 0.120 | 2 | 30226728 | upstream gene variant | G/A | snv | 0.51 | 0.800 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 30400858 | intergenic variant | C/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2007 | 2009 |