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 | 0.040 | 4 | 184816689 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.200 | 6 | 131846837 | intron variant | C/T | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 18 | 75154908 | intergenic variant | C/T | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.100 | 0.944 | 18 | 2008 | 2018 | ||||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.160 | 16 | 11003622 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 17 | 33729207 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 74562732 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.160 | 8 | 19954234 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 13 | 103058487 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.827 | 0.200 | 2 | 238246412 | missense variant | C/T | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.925 | 0.040 | 2 | 233765830 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 2 | 113119918 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 0.020 | 0.500 | 2 | 2008 | 2015 | |||
|
4 | 0.851 | 0.120 | 7 | 116527154 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 17418926 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 31570720 | upstream gene variant | T/A;C | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.925 | 0.080 | 3 | 157080986 | upstream gene variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 19 | 22506585 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 |