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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.240 | 12 | 109586098 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.240 | 12 | 109596525 | missense variant | A/G | snv | 3.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.240 | 12 | 109586102 | missense variant | T/C | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 12 | 109574838 | frameshift variant | CTACTGGTGTCTGCTCCGG/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 12 | 109581434 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 12 | 109590865 | splice region variant | A/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.240 | 12 | 109586039 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 109595118 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.200 | 12 | 109595145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 6 | 38737215 | missense variant | T/C | snv | 6.4E-05 | 3.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.200 | 12 | 109574893 | missense variant | A/C | snv | 4.1E-06; 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.200 | 12 | 109590850 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 5 | 179833083 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 12 | 109586086 | missense variant | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 19 | 49909008 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 19 | 49909002 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 4 | 121669702 | missense variant | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.240 | 12 | 109574893 | frameshift variant | -/T | delins | 0.700 | 1.000 | 2 | 2003 | 2006 | |||||
|
3 | 0.882 | 0.240 | 12 | 109591302 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2000 | 2006 | |||
|
4 | 0.851 | 0.240 | 12 | 109579921 | missense variant | T/C | snv | 3.2E-05 | 7.0E-05 | 0.710 | 1.000 | 3 | 2010 | 2013 | |||
|
2 | 0.925 | 0.200 | 12 | 109574881 | missense variant | A/C;G | snv | 4.1E-06; 4.1E-06 | 0.800 | 1.000 | 5 | 1992 | 2001 | ||||
|
1 | 1.000 | 0.200 | 12 | 109590821 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1992 | 2001 | |||||
|
1 | 1.000 | 0.200 | 12 | 109591262 | missense variant | C/G;T | snv | 2.4E-05 | 0.700 | 1.000 | 5 | 1992 | 2001 | ||||
|
2 | 0.925 | 0.200 | 12 | 109591266 | missense variant | T/C;G | snv | 0.700 | 1.000 | 5 | 1992 | 2001 | |||||
|
4 | 0.851 | 0.240 | 12 | 109595070 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.810 | 1.000 | 6 | 1992 | 2010 |