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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 16 | 55698511 | missense variant | G/A | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
21 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.790 | 0.080 | 12 | 72018714 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 0.080 | 13 | 46854336 | intron variant | A/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 13 | 46860971 | intron variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 13 | 46845442 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.790 | 0.120 | 12 | 71958763 | intron variant | T/C;G | snv | 0.82 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
|
2 | 0.925 | 0.040 | 4 | 163346771 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.120 | 11 | 18040661 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 4 | 163351551 | synonymous variant | G/A;T | snv | 0.10; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 8 | 14507414 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 19 | 33519283 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 11 | 100627998 | intergenic variant | T/G | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 1 | 42158001 | downstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 1 | 240955726 | intron variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 110695063 | intergenic variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 12 | 5687935 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 135991866 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 6 | 71169166 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 11 | 45179068 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 9 | 12182545 | intergenic variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 8 | 27595330 | downstream gene variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 17 | 73339121 | intron variant | G/A | snv | 0.40 | 0.800 | 1.000 | 1 | 2009 | 2009 |