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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 12 | 56443632 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.080 | 6 | 132571193 | missense variant | G/A | snv | 6.2E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.080 | 6 | 134281316 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 16 | 3656127 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 6 | 116296236 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 9 | 128833128 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 10 | 67920067 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 9 | 4860267 | missense variant | C/T | snv | 2.6E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 15 | 78636604 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 21 | 46602608 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.080 | 12 | 132621913 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 17 | 63488659 | missense variant | G/A | snv | 8.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 11 | 6321099 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 11 | 27731216 | intron variant | T/C;G | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | 6 | 134176537 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.120 | 6 | 134233200 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.080 | 22 | 21920372 | 3 prime UTR variant | G/A | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 10 | 111078794 | missense variant | C/G;T | snv | 1.9E-03 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.120 | 5 | 63961673 | missense variant | G/A | snv | 1.8E-03 | 5.3E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.882 | 0.080 | 1 | 162334048 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 17 | 45834159 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 15 | 60549076 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 |