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 | 6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1 | 161626229 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 19353152 | synonymous variant | C/A;T | snv | 1.6E-04; 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 2 | 188984825 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 9 | 136500595 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 1 | 161548502 | missense variant | T/C | snv | 1.5E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 2 | 207567506 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 55488911 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 3 | 55491957 | upstream gene variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 0.925 | 18 | 62146023 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 1.000 | 2 | 148947018 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 9 | 136514670 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 19 | 34377533 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 22 | 41117439 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 6 | 31165136 | missense variant | C/T | snv | 8.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 20 | 45419351 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 17 | 72124262 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.040 | 4 | 88521653 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2020 | |||||
|
5 | 0.851 | 0.080 | 6 | 1610780 | missense variant | T/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.080 | 11 | 102955390 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.080 | 8 | 143728570 | stop gained | A/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.080 | 7 | 19116972 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.080 | 20 | 45424323 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |