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 | 1 | 201367513 | non coding transcript exon variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 201365613 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 201362016 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 201365198 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 201368194 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 201364324 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 201365254 | missense variant | G/A;C | snv | 0.72 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
6 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 0.020 | 1.000 | 2 | 2003 | 2016 | ||||
|
5 | 0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2003 | 2016 |