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 | 0.882 | 0.040 | 12 | 130827204 | missense variant | A/C | snv | 1.4E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.040 | 22 | 43863901 | upstream gene variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.040 | 20 | 9448697 | intron variant | A/G | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 13 | 55819766 | intergenic variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.040 | 7 | 100715797 | upstream gene variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 12 | 117921609 | intron variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 1 | 243445665 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 14 | 72119843 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.080 | 7 | 100701361 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.040 | 2 | 39936810 | intron variant | AT/-;ATAT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.040 | 18 | 23164290 | intron variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 5 | 160168028 | intergenic variant | C/A | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 7 | 100689872 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 4 | 187800358 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 6 | 65987110 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.040 | 9 | 26133810 | intergenic variant | C/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 9 | 108863349 | missense variant | C/G | snv | 2.3E-02 | 2.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.040 | 14 | 54903622 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2009 | 2019 |