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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 11 | 18022863 | synonymous variant | A/G | snv | 6.0E-03 | 6.4E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
6 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 9 | 4582843 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.827 | 0.080 | 12 | 71942989 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 21 | 33029069 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 21 | 33028471 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 9 | 85016119 | intron variant | C/T | snv | 0.93 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 9 | 4576851 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.200 | 6 | 31547563 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 15 | 87978049 | 3 prime UTR variant | C/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 9 | 4389941 | upstream gene variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 9 | 4559892 | non coding transcript exon variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.160 | 6 | 38398097 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 1 | 162367213 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.120 | 6 | 29666226 | missense variant | G/C | snv | 0.22 | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 1 | 34864921 | downstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 101885466 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 101869470 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 6 | 79547564 | intergenic variant | C/A | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 34901689 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |