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 | 1 | 208936211 | intergenic variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 | |||
|
3 | 0.882 | 0.040 | 1 | 17669971 | intron variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 243445665 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 2 | 46505266 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.040 | 2 | 234306004 | regulatory region variant | G/A | snv | 7.5E-02 | 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 | 2 | 106193504 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.080 | 3 | 52781889 | intron variant | T/C | snv | 0.49 | 0.54 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
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 | 4 | 178642661 | intergenic variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 4 | 11186225 | intergenic variant | C/T | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 5 | 29091578 | intron variant | C/T | snv | 0.50 | 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 | ||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.040 | 6 | 65987110 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 6 | 164507108 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 6 | 65986379 | intergenic variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 7 | 125615031 | intergenic variant | CA/- | delins | 1.0E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 |