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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 | 0.700 | 0 | |||||||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.710 | 1.000 | 2 | 2011 | 2016 | ||||
|
12 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.752 | 0.080 | 11 | 5226774 | stop gained | G/A;C;T | snv | 3.3E-04 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.752 | 0.080 | 11 | 5227158 | 5 prime UTR variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.080 | 11 | 5227159 | 5 prime UTR variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.752 | 0.080 | 11 | 5226970 | stop gained | T/A;C;G | snv | 5.6E-05; 3.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.080 | 11 | 5226820 | non coding transcript exon variant | C/T | snv | 1.6E-04 | 9.1E-05 | 0.700 | 0 | ||||||
|
18 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.763 | 0.080 | 11 | 5226576 | splice donor variant | C/A;G;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.080 | 11 | 5226929 | splice donor variant | C/A;T | snv | 7.2E-05; 9.5E-05 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.080 | 11 | 5225832 | intron variant | G/C | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.080 | 11 | 5226924 | splice region variant | A/G;T | snv | 1.2E-04 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.280 | 11 | 5227099 | 5 prime UTR variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.080 | 11 | 5226943 | stop gained | C/A;G;T | snv | 2.5E-04 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv | 0.710 | 1.000 | 3 | 2011 | 2019 | |||||
|
6 | 0.827 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.080 | 11 | 5226940 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.320 | 12 | 6333835 | missense variant | G/A;C | snv | 5.7E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
13 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 |