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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.030 | 1.000 | 3 | 2015 | 2017 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 1.000 | 3 | 2015 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.280 | 4 | 147539885 | synonymous variant | T/C | snv | 0.28 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 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 | 2008 | 2008 | |||
|
6 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 0.800 | 1.000 | 24 | 2000 | 2015 | ||||
|
10 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 0.800 | 1.000 | 24 | 2000 | 2018 | |||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.810 | 1.000 | 20 | 2000 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179557227 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 20 | 2000 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179559711 | missense variant | G/A | snv | 0.800 | 1.000 | 16 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179561315 | missense variant | A/G | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179561324 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 1.000 | 14 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 179564779 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 14 | 2000 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 179575780 | missense variant | C/T | snv | 2.0E-05 | 2.4E-04 | 0.700 | 1.000 | 14 | 2000 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
4 | 0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 | 0.800 | 1.000 | 9 | 2004 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | ||||
|
2 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2005 | ||||
|
2 | 0.925 | 0.080 | 1 | 179564689 | splice donor variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2015 |