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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 29726650 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
6 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
3 | 0.882 | 0.120 | 19 | 19250926 | 3 prime UTR variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 1 | 92655550 | intron variant | G/C | snv | 0.57 | 0.710 | 1.000 | 2 | 2011 | 2017 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2013 | |||||
|
5 | 0.851 | 0.080 | 1 | 2569783 | non coding transcript exon variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 46657898 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 67504839 | intron variant | G/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 5 | 159491886 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 12 | 57670954 | upstream gene variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.080 | 12 | 57771302 | intron variant | C/T | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 119222275 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 |