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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 14 | 73192721 | missense variant | G/T | snv | 0.800 | 1.000 | 32 | 1995 | 2018 | |||||
|
13 | 0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 | 0.800 | 1.000 | 31 | 1995 | 2018 | ||||
|
13 | 0.732 | 0.160 | 14 | 73219177 | missense variant | C/A;T | snv | 0.800 | 1.000 | 29 | 1995 | 2018 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.800 | 1.000 | 29 | 1995 | 2018 | |||||
|
4 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 0.800 | 1.000 | 28 | 1995 | 2018 | |||||
|
10 | 0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv | 0.800 | 1.000 | 25 | 1995 | 2018 | |||||
|
5 | 0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv | 0.800 | 1.000 | 24 | 1995 | 2018 | |||||
|
3 | 0.882 | 0.080 | 14 | 73186869 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 24 | 1995 | 2018 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 24 | 1995 | 2018 | |||||
|
3 | 0.882 | 0.160 | 14 | 73173665 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 24 | 1995 | 2018 | |||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.800 | 1.000 | 24 | 1995 | 2018 | |||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 24 | 1995 | 2018 | |||||
|
3 | 0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1995 | 2018 | |||||
|
8 | 0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1995 | 2018 | |||||
|
6 | 0.807 | 0.120 | 14 | 73217225 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 17 | 1995 | 2017 | ||||
|
9 | 0.763 | 0.160 | 14 | 73198067 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 10 | 1996 | 2017 | |||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.800 | 1.000 | 4 | 2010 | 2014 | ||||
|
5 | 0.827 | 0.160 | 14 | 73192786 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
3 | 0.882 | 0.080 | 14 | 73186859 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
3 | 0.882 | 0.080 | 14 | 73170984 | missense variant | G/C | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
7 | 0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
6 | 0.807 | 0.160 | 14 | 73219161 | missense variant | G/C | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.080 | 14 | 73198060 | missense variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
6 | 0.807 | 0.120 | 14 | 73198117 | missense variant | C/G | snv | 0.800 | 1.000 | 4 | 2010 | 2014 |