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 | 0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
3 | 0.925 | 0.080 | 5 | 119393632 | 3 prime UTR variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 9 | 99145142 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 10 | 113678707 | upstream gene variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 10 | 113710131 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 14 | 65093799 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 12 | 68808776 | intron variant | G/C | snv | 2.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 28623160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.080 | 7 | 44609201 | intron variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 16 | 3068864 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | X | 67764173 | intergenic variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 6 | 30896816 | missense variant | G/A | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 10 | 121515180 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 11 | 44618361 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.925 | 0.080 | 6 | 151842622 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 3 | 84885341 | intron variant | G/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 6 | 21648854 | regulatory region variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 195868640 | missense variant | C/T | snv | 1.2E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 18 | 677931 | intron variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 18 | 677302 | intron variant | G/A | snv | 0.34 | 0.34 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.080 | 7 | 45913974 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 9 | 10260263 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 14 | 104779988 | intron variant | T/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 14 | 104796575 | upstream gene variant | G/C | snv | 0.86 | 0.010 | < 0.001 | 1 | 2015 | 2015 |