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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 17 | 39918265 | non coding transcript exon variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 17 | 39942782 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
12 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.790 | 0.200 | 17 | 39924659 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 17 | 39954981 | intron variant | G/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 17 | 39936460 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 127393348 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.080 | 17 | 39766006 | synonymous variant | G/A | snv | 0.41 | 0.36 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
9 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.160 | 17 | 39917793 | non coding transcript exon variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 7 | 30687161 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 5 | 132674079 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 9 | 79424447 | intergenic variant | A/C;G;T | snv | 0.810 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.882 | 0.120 | 17 | 74872110 | stop gained | G/A;C | snv | 4.1E-06; 4.1E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 16 | 27363275 | synonymous variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 16 | 27362545 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 12 | 117265431 | missense variant | C/T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
10 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 5 | 140634318 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.080 | 12 | 109814742 | missense variant | G/A;C | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |