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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 5 | 14783123 | intron variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 5 | 14781635 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 10 | 93064409 | missense variant | G/A | snv | 0.10 | 8.8E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.200 | 1 | 21576457 | intron variant | C/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 21568242 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 1 | 21558702 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.160 | 6 | 30490287 | missense variant | G/A;T | snv | 0.54 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 208349547 | intron variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | X | 47583421 | synonymous variant | C/A | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 157544301 | missense variant | C/T | snv | 0.19 | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 11 | 102843480 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
25 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 1 | 157539092 | missense variant | C/G;T | snv | 0.82 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 21 | 39093252 | intergenic variant | G/A | snv | 0.46 | 0.810 | 1.000 | 2 | 2010 | 2010 | ||||
|
5 | 1.000 | 0.040 | 6 | 26233159 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 5 | 123756807 | regulatory region variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.120 | 6 | 25925759 | intron variant | G/A | snv | 7.5E-02 | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 16 | 67657765 | missense variant | A/G | snv | 0.50 | 0.61 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 6 | 31368323 | intron variant | C/A | snv | 0.31 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 26175624 | intron variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 |