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 | 0.080 | 12 | 6022833 | missense variant | A/G | snv | 0.830 | 1.000 | 4 | 2000 | 2009 | |||||
|
7 | 0.851 | 0.080 | 12 | 6021960 | missense variant | C/A;T | snv | 0.720 | 1.000 | 2 | 2009 | 2009 | |||||
|
7 | 0.807 | 0.080 | 12 | 6034812 | missense variant | C/T | snv | 3.4E-03 | 3.7E-03 | 0.710 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 12 | 6075392 | missense variant | G/A | snv | 2.8E-05; 8.0E-06 | 4.2E-05 | 0.700 | 1.000 | 2 | 2000 | 2001 | |||
|
1 | 1.000 | 0.080 | 12 | 6046725 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 12 | 6018443 | stop gained | G/A;T | snv | 5.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 12 | 6013544 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 6019004 | missense variant | C/A;G;T | snv | 2.7E-04; 0.12; 4.0E-06 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 6022811 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2001 | 2002 | |||||
|
1 | 1.000 | 0.080 | 12 | 6031493 | missense variant | C/T | snv | 1.1E-02 | 1.2E-02 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
2 | 0.925 | 0.080 | 12 | 6019283 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2016 | |||
|
1 | 1.000 | 0.080 | 6 | 147314277 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 12 | 6064317 | missense variant | C/T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 147267123 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 12 | 103759154 | missense variant | G/A | snv | 5.2E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 12 | 6019288 | missense variant | G/A | snv | 2.1E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.120 | 12 | 6018667 | missense variant | T/C | snv | 2.7E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.080 | 12 | 6034799 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 19 | 7766742 | missense variant | G/A | snv | 0.27 | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 12 | 6022889 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.080 | 12 | 6022740 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 12 | 6044420 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019298 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 12 | 6019180 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 12 | 5983175 | synonymous variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |