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 | 13 | 94811138 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2012 | |||||
|
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 | ||||
|
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 | ||||
|
1 | 1.000 | 0.040 | 1 | 201293304 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 6 | 150592825 | intergenic variant | T/A | snv | 0.73 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 12 | 53720374 | intron variant | C/T | snv | 3.6E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
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 | ||||
|
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 | 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 | ||||
|
1 | 1.000 | 0.040 | 12 | 105659532 | regulatory region variant | C/A | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 60214608 | intron variant | C/T | snv | 0.96 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 15 | 2002 | 2018 | |||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.090 | 1.000 | 9 | 2011 | 2019 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.060 | 1.000 | 6 | 2004 | 2019 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.060 | 1.000 | 6 | 2001 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.060 | 1.000 | 6 | 2004 | 2019 | ||||
|
2 | 0.925 | 0.040 | 4 | 157047466 | intergenic variant | G/A | snv | 0.10 | 0.030 | 1.000 | 3 | 2017 | 2019 | ||||
|
7 | 0.790 | 0.120 | 12 | 71958763 | intron variant | T/C;G | snv | 0.82 | 0.020 | 1.000 | 2 | 2007 | 2008 |