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 | 7 | 100689872 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 7 | 100701361 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
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 | 2 | 106193504 | intron variant | C/T | snv | 0.36 | 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 | |||
|
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 | 11 | 113697374 | missense variant | C/T | snv | 2.0E-03 | 9.2E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.040 | 12 | 117921609 | intron variant | A/G | snv | 7.7E-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 | |||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
10 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 8 | 120839185 | intergenic variant | T/G | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 7 | 125615031 | intergenic variant | CA/- | delins | 1.0E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 19 | 12940432 | missense variant | C/T | snv | 1.2E-03 | 3.4E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
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 | |||
|
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 | 7 | 156250946 | intergenic variant | G/C | snv | 0.10 | 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 | ||||
|
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 | 1 | 17669971 | intron variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 4 | 178642661 | intergenic variant | G/A | snv | 2.9E-02 | 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 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.040 | 7 | 1997034 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 |