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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 7 | 27787484 | missense variant | T/A | snv | 8.2E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 11 | 108281026 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 17 | 58692526 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.040 | 17 | 58693735 | 3 prime UTR variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 11 | 223119 | 3 prime UTR variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 127292492 | 3 prime UTR variant | C/T | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 10 | 49493110 | splice region variant | G/A;T | snv | 0.89; 4.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 20 | 49526825 | intron variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 8731250 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 20 | 49561676 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 20 | 49559061 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 11 | 219793 | intron variant | C/T | snv | 0.79 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 8731740 | missense variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 7 | 152655183 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 20 | 49561437 | intron variant | G/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 10 | 93588425 | 3 prime UTR variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 6 | 40354019 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 18 | 31607316 | intergenic variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 6 | 43780848 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06; 1.2E-05; 3.6E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 17 | 7673730 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.040 | 4 | 99420704 | synonymous variant | C/T | snv | 0.12 | 0.13 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.160 | 4 | 184627797 | 3 prime UTR variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 22 | 42127526 | missense variant | C/G;T | snv | 4.4E-06; 9.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 7 | 2294751 | intron variant | G/A | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 |