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 | 0.160 | 2 | 47803506 | missense variant | C/A;G;T | snv | 9.5E-05; 7.2E-05; 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47799548 | missense variant | A/G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47783394 | missense variant | G/C | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 2 | 47800910 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47799840 | missense variant | A/C | snv | 1.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 47790963 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47800391 | missense variant | A/G | snv | 8.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.030 | 0.667 | 3 | 2009 | 2018 | ||||
|
15 | 0.732 | 0.240 | 2 | 47799934 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.200 | 2 | 47800966 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 2 | 47799048 | synonymous variant | T/C | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 |