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 | 7 | 50476625 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 | 0.800 | 1.000 | 4 | 2004 | 2010 | |||
|
1 | 1.000 | 7 | 50539926 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 2 | 2004 | 2004 | ||||
|
3 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2004 | 2004 | |||||
|
1 | 1.000 | 7 | 50495369 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2004 | 2004 | ||||||
|
1 | 1.000 | 7 | 50529339 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 2004 | 2004 | ||||||
|
1 | 1.000 | 7 | 50539958 | missense variant | G/A;T | snv | 3.6E-05 | 0.800 | 1.000 | 2 | 2004 | 2004 | |||||
|
1 | 1.000 | 7 | 50499201 | missense variant | C/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 2 | 2004 | 2004 | |||||
|
1 | 1.000 | 7 | 50470173 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2004 | 2010 | ||||||
|
13 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 1.000 | 7 | 50463322 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
6 | 0.925 | 0.080 | 7 | 50470140 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 7 | 50543946 | missense variant | G/A;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 7 | 50539915 | missense variant | C/A;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 7 | 50539944 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 7 | 50539970 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 7 | 50544079 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |