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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 25070680 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
9 | 0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.320 | 6 | 30814225 | non coding transcript exon variant | C/T | snv | 7.1E-02 | 8.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.040 | 7 | 146262151 | intron variant | T/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 7 | 146254550 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 0.925 | 0.040 | 9 | 92060258 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.040 | 20 | 35652946 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 5 | 4720472 | intron variant | G/C | snv | 0.32 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 2 | 133257389 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 1.000 | 17 | 2004 | 2019 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
6 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 19 | 18357076 | intron variant | T/C | snv | 0.74 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
7 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
4 | 0.925 | 0.040 | 17 | 48763179 | intron variant | T/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 |