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 | 1.000 | 0.080 | 6 | 153704004 | intergenic variant | T/C | snv | 0.14 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 19 | 36240156 | intron variant | A/G;T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 13 | 80614113 | downstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 12981042 | non coding transcript exon variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 6 | 66628700 | intergenic variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.100 | 0.900 | 10 | 2001 | 2020 | |||
|
2 | 0.925 | 0.080 | 20 | 1973693 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2009 | 2019 | |||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.030 | 1.000 | 3 | 2009 | 2015 | |||
|
4 | 0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 | 0.030 | 0.667 | 3 | 2009 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 0.667 | 3 | 2008 | 2016 | |||
|
6 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
5 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 0.020 | 1.000 | 2 | 2000 | 2008 | |||
|
4 | 0.851 | 0.120 | 20 | 1979580 | 3 prime UTR variant | A/G | snv | 0.35 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 9302780 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.080 | 15 | 93204756 | intergenic variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 9300678 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.080 | 2 | 25157704 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |