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 | 10142035 | missense variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||
|
4 | 0.851 | 0.280 | 3 | 10142166 | missense variant | C/G;T | snv | 4.5E-06 | 0.800 | 1.000 | 3 | 2013 | 2014 | ||||
|
3 | 0.882 | 0.200 | 3 | 10142124 | missense variant | G/A;C;T | snv | 4.5E-06 | 0.800 | 1.000 | 3 | 2013 | 2014 | ||||
|
8 | 0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2003 | |||||
|
3 | 0.882 | 0.200 | 3 | 10149814 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.200 | 3 | 10149808 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
7 | 0.790 | 0.280 | 3 | 10142086 | missense variant | G/A;T | snv | 0.710 | < 0.001 | 1 | 2008 | 2008 | |||||
|
10 | 0.776 | 0.320 | 3 | 10142139 | missense variant | T/C | snv | 1.3E-05 | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||
|
9 | 0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 0.810 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.882 | 0.200 | 3 | 10142097 | missense variant | G/A;C;T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 3 | 10142158 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.240 | 3 | 10146587 | synonymous variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 3 | 10146624 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
4 | 0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 10146613 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.200 | 3 | 10146528 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 10141921 | missense variant | C/T | snv | 3.0E-03 | 2.6E-03 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 3 | 10149790 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 3 | 10149822 | missense variant | C/G;T | snv | 8.0E-06 | 0.800 | 0 | |||||||
|
8 | 0.827 | 0.280 | 3 | 10149823 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.280 | 3 | 10149871 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 3 | 10146580 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 10149908 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 10149802 | missense variant | A/T | snv | 0.700 | 0 |