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 | 14 | 23424770 | missense variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2012 | 2017 | |||||||
|
1 | 14 | 23425358 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2017 | ||||||
|
2 | 14 | 23431608 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 14 | 23427274 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 23427773 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 14 | 23427682 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 23427675 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 23432684 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 14 | 23413832 | missense variant | G/C | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 23413823 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||||
|
1 | 14 | 23427889 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 23413805 | protein altering variant | GACT/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 23424119 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2011 | 2017 | ||||
|
2 | 1.000 | 0.040 | 14 | 23431798 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 1.000 | 0.040 | 14 | 23431859 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 0.700 | 1.000 | 11 | 2004 | 2015 | |||||
|
3 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1989 | 2013 | |||||
|
4 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
6 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2009 | 2017 | |||||
|
3 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 2 | 2011 | 2017 | ||||
|
5 | 0.851 | 0.080 | 14 | 23428505 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
8 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 14 | 23415096 | missense variant | G/A;C;T | snv | 1.6E-05; 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.160 | 14 | 23413809 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2012 | 2017 |