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 | 29967114 | downstream gene variant | A/G | snv | 5.5E-02 | 0.720 | 1.000 | 5 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 29972711 | upstream gene variant | T/C | snv | 0.74 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 29964889 | intergenic variant | G/A | snv | 0.22 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 30032910 | non coding transcript exon variant | T/C | snv | 5.0E-02 | 0.710 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.120 | 20 | 33235584 | upstream gene variant | T/C;G | snv | 0.33 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
1 | 1.000 | 0.120 | 16 | 83940313 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 2 | 55080510 | 5 prime UTR variant | C/A | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 29942921 | missense variant | G/A | snv | 6.1E-02 | 9.0E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 14 | 68295488 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 11 | 79422176 | mature miRNA variant | T/C | snv | 0.12 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 35231896 | 3 prime UTR variant | T/C | snv | 4.9E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 55050090 | missense variant | C/T | snv | 0.12 | 6.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 6 | 30204594 | intron variant | T/A | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 30119172 | intron variant | C/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 9 | 18573362 | mature miRNA variant | G/A | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 1 | 206772296 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 20 | 33237991 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 10 | 133543735 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29708939 | upstream gene variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29710175 | upstream gene variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 37474042 | intron variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 37465958 | intron variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 55001811 | intron variant | A/G | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |