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 | 2 | 21034825 | missense variant | A/C | snv | 9.9E-05 | 5.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 2 | 21024193 | 3 prime UTR variant | T/A | snv | 4.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 21044589 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 2 | 21026844 | missense variant | C/T | snv | 2.7E-02 | 2.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 2 | 21042823 | intron variant | T/C | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21018872 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21024339 | 3 prime UTR variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21044338 | upstream gene variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21014914 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 2 | 21014366 | intron variant | A/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21040767 | intron variant | T/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21037729 | intron variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21028168 | intron variant | T/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21039555 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 2 | 21018633 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
4 | 2 | 21004511 | intron variant | C/G | snv | 0.16 | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 2 | 21036740 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
6 | 2 | 21011100 | missense variant | T/C | snv | 3.1E-02 | 2.9E-02 | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||
|
7 | 0.925 | 0.080 | 2 | 21028042 | missense variant | G/A | snv | 0.49 | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.800 | 1.000 | 8 | 2010 | 2019 | |||
|
8 | 1.000 | 0.080 | 2 | 21003688 | intron variant | A/G | snv | 0.76 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
11 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.800 | 1.000 | 4 | 2012 | 2018 |