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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 2 | 191090464 | intron variant | ATAATA/-;ATA;ATAATAATA | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.200 | 3 | 160001345 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.240 | 5 | 173852839 | intergenic variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 5 | 151055333 | intron variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.200 | 6 | 32691868 | regulatory region variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.200 | 6 | 78774669 | intergenic variant | C/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.240 | 6 | 32440720 | intron variant | A/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 |