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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 3 | 38579474 | missense variant | C/G;T | snv | 8.2E-06 | 0.700 | 1.000 | 3 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 38551258 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2008 | 2011 | |||||
|
2 | 0.925 | 0.120 | 3 | 38604007 | missense variant | A/C | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2009 | |||
|
2 | 0.925 | 0.120 | 3 | 8733916 | missense variant | G/A;C | snv | 4.3E-04 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 3 | 8745647 | missense variant | T/G | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 12 | 21765962 | missense variant | C/T | snv | 9.9E-05 | 3.1E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 2572885 | missense variant | A/G | snv | 1.8E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
3 | 0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.120 | 3 | 38550500 | stop gained | G/A | snv | 4.5E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
2 | 0.882 | 0.120 | 3 | 38560394 | missense variant | G/T | snv | 0.710 | 1.000 | 2 | 2008 | 2009 | |||||
|
3 | 0.790 | 0.080 | 3 | 38579416 | missense variant | G/A;T | snv | 1.6E-05; 5.9E-03 | 0.750 | 0.800 | 0 | 2006 | 2011 |