Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 |
|
0.860 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.840 | 1.000 | 4 | 2011 | 2019 | |||||||
|
0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 |
|
0.810 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
1 | 112673921 | intron variant | A/C;G | snv |
|
0.810 | 1.000 | 1 | 2011 | 2013 | |||||||||||
|
10 | 18131043 | intergenic variant | G/C;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2013 | |||||||||||
|
5 | 133686160 | intergenic variant | C/T | snv | 0.34 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 |
|
0.800 | 0.929 | 11 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 |
|
0.780 | 1.000 | 8 | 2011 | 2018 | ||||||||
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.760 | 0.857 | 6 | 2011 | 2018 | |||||||
|
0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv |
|
0.760 | 0.857 | 6 | 2010 | 2018 | |||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.710 | 1.000 | 1 | 2014 | 2015 | ||||||||
|
12 | 89595822 | intron variant | G/A | snv | 0.60 |
|
0.710 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 |
|
0.710 | 1.000 | 1 | 2015 | 2018 | ||||||||
|
0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv |
|
0.710 | 1.000 | 1 | 2013 | 2018 | |||||||||
|
18 | 6282594 | intron variant | A/C | snv | 0.27 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.080 | 16 | 1212024 | missense variant | A/G | snv | 7.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 27507409 | regulatory region variant | A/G | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2015 | 2018 | ||||||||||
|
5 | 132233934 | intron variant | T/C | snv | 0.59 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.100 | 0.865 | 89 | 1994 | 2019 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.100 | 0.891 | 46 | 1998 | 2018 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.927 | 41 | 1999 | 2017 | ||||||||
|
0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 |
|
0.100 | 0.842 | 38 | 1998 | 2020 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.862 | 29 | 1998 | 2019 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.100 | 0.786 | 28 | 1997 | 2015 |