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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 6 | 152007481 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.080 | X | 85308188 | missense variant | C/T | snv | 2.7E-03 | 3.5E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 1 | 22129830 | synonymous variant | C/A;T | snv | 1.2E-05; 3.2E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 64778294 | synonymous variant | C/T | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 6 | 139373341 | missense variant | G/T | snv | 1.6E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 1 | 183125412 | missense variant | T/C | snv | 0.58 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.160 | 8 | 132971813 | missense variant | C/T | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 5 | 119536489 | missense variant | C/T | snv | 7.0E-03 | 2.8E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.807 | 0.280 | 4 | 55110466 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 2 | 162147505 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.080 | 5 | 129721066 | intron variant | G/T | snv | 0.94 | 0.710 | 1.000 | 2 | 2009 | 2013 | ||||
|
3 | 0.882 | 0.200 | 19 | 2249478 | missense variant | G/T | snv | 0.77 | 0.74 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | X | 50916132 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.742 | 0.320 | 12 | 130876696 | 3 prime UTR variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 6 | 43524840 | synonymous variant | G/A | snv | 0.30 | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 7 | 150997170 | intron variant | AGGGGTGAGGAAGTCTAGACCTGCTGC/-;AGGGGTGAGGAAGTCTAGACCTGCTGCAGGGGTGAGGAAGTCTAGACCTGCTGC | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.320 | 5 | 31532531 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 |