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 | 0.040 | 10 | 86958785 | missense variant | G/C | snv | 0.080 | 1.000 | 8 | 1999 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 15735725 | intron variant | G/A;T | snv | 0.850 | 1.000 | 7 | 2011 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 205795512 | non coding transcript exon variant | G/A | snv | 0.77 | 0.70 | 0.850 | 1.000 | 7 | 2011 | 2019 | |||
|
1 | 1.000 | 0.040 | 14 | 54882151 | intron variant | C/A;G;T | snv | 0.730 | 1.000 | 6 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 205744250 | intron variant | G/A | snv | 0.88 | 0.850 | 1.000 | 6 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 232528865 | intron variant | C/T | snv | 0.12 | 0.730 | 1.000 | 5 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 205838885 | intron variant | C/A;T | snv | 0.730 | 1.000 | 5 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.040 | 2 | 168260515 | intergenic variant | G/T | snv | 0.15 | 0.820 | 1.000 | 5 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 89743643 | intron variant | C/T | snv | 0.24 | 0.730 | 1.000 | 5 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 16839582 | intron variant | G/A;C | snv | 0.730 | 1.000 | 5 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 183103487 | intron variant | G/A | snv | 0.12 | 0.810 | 1.000 | 4 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 15724143 | intron variant | T/C | snv | 0.13 | 0.730 | 0.500 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 31110472 | synonymous variant | G/A | snv | 0.39 | 0.31 | 0.720 | 1.000 | 4 | 2014 | 2019 | |||
|
1 | 1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 | 0.800 | 1.000 | 4 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 23254127 | intron variant | A/G | snv | 0.42 | 0.54 | 0.720 | 1.000 | 4 | 2014 | 2019 | |||
|
1 | 1.000 | 0.040 | 4 | 89790619 | intron variant | T/C | snv | 0.45 | 0.720 | 1.000 | 4 | 2008 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 89788590 | intron variant | G/A | snv | 0.25 | 0.710 | 1.000 | 4 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 205808652 | intron variant | G/A | snv | 0.66 | 0.720 | 1.000 | 4 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 89733852 | intron variant | T/C | snv | 0.19 | 0.730 | 1.000 | 4 | 2006 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 122819039 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 970571 | intron variant | C/T | snv | 9.3E-02 | 0.810 | 1.000 | 3 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 19268142 | 3 prime UTR variant | T/C;G | snv | 0.710 | 1.000 | 3 | 2016 | 2019 | |||||
|
1 | 1.000 | 0.040 | 4 | 89713869 | intron variant | T/A;C | snv | 0.710 | 1.000 | 3 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.040 | 8 | 22668467 | intron variant | T/A;C;G | snv | 0.73 | 0.720 | 1.000 | 3 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 61701935 | intron variant | G/A | snv | 0.67 | 0.710 | 1.000 | 3 | 2014 | 2017 |