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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.120 | 14 | 73217225 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1995 | 2017 | ||||
|
5 | 0.827 | 0.120 | 14 | 73192721 | missense variant | G/T | snv | 0.700 | 1.000 | 9 | 1998 | 2017 | |||||
|
13 | 0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 2001 | 2017 | ||||
|
13 | 0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 2006 | 2017 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.700 | 1.000 | 6 | 1995 | 2017 | |||||
|
9 | 0.763 | 0.160 | 14 | 73198067 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 1996 | 2017 | |||
|
10 | 0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv | 0.700 | 1.000 | 5 | 1995 | 2015 | |||||
|
4 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1998 | 2017 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173631 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1997 | 2017 | |||||
|
13 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 0.710 | 1.000 | 4 | 2001 | 2018 | |||||
|
3 | 0.882 | 0.120 | 14 | 73171047 | missense variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2004 | 2010 | |||||
|
5 | 0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 14 | 73186877 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 14 | 73192771 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.120 | 14 | 73186920 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 14 | 73170827 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 14 | 73173591 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 73173636 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 14 | 73192786 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 14 | 73219161 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 3 | 2010 | 2017 |