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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 2007 | 2015 | ||||
|
10 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 0.020 | 1.000 | 2 | 2002 | 2006 | |||
|
2 | 0.925 | 0.160 | 2 | 201209363 | missense variant | A/C;T | snv | 4.5E-03 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 201285277 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 2 | 201208114 | missense variant | C/T | snv | 2.4E-05 | 2.0E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 2 | 201209484 | missense variant | A/G | snv | 3.0E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.120 | 2 | 111123957 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 2 | 169636474 | missense variant | A/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.200 | 3 | 12618681 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 10 | 89014163 | missense variant | A/C | snv | 0.700 | 1.000 | 13 | 1995 | 2010 | |||||
|
2 | 0.925 | 0.120 | 10 | 89008915 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1995 | 2010 | ||||
|
1 | 1.000 | 0.120 | 10 | 89014137 | missense variant | A/G | snv | 0.700 | 1.000 | 13 | 1995 | 2010 | |||||
|
3 | 0.882 | 0.160 | 10 | 89014191 | missense variant | G/C | snv | 0.700 | 1.000 | 13 | 1995 | 2010 | |||||
|
2 | 0.925 | 0.120 | 10 | 89014251 | missense variant | C/T | snv | 0.700 | 1.000 | 13 | 1995 | 2010 | |||||
|
2 | 0.925 | 0.120 | 10 | 89014220 | missense variant | G/T | snv | 0.700 | 1.000 | 13 | 1995 | 2010 | |||||
|
1 | 1.000 | 0.120 | 10 | 89014164 | missense variant | C/A | snv | 6.0E-05 | 0.700 | 1.000 | 13 | 1995 | 2010 | ||||
|
7 | 0.925 | 0.160 | 10 | 89007698 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 89012082 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 89014221 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
14 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |