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 | 0.040 | 15 | 72833651 | regulatory region variant | A/G | snv | 0.96 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 8 | 27037027 | intergenic variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.752 | 0.160 | 11 | 27678578 | intron variant | C/T | snv | 0.82 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 18 | 71812685 | intergenic variant | T/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 166038556 | intron variant | A/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 2 | 166036278 | missense variant | C/T | snv | 0.73 | 0.74 | 0.020 | 1.000 | 2 | 2009 | 2017 | |||
|
21 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 57867738 | intergenic variant | A/C | snv | 0.70 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 17 | 8158784 | intron variant | G/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 87512498 | intron variant | T/C | snv | 0.63 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 5 | 161895883 | non coding transcript exon variant | G/A | snv | 0.62 | 0.63 | 0.030 | 1.000 | 3 | 2010 | 2016 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.030 | 0.667 | 3 | 2009 | 2011 | |||
|
1 | 1.000 | 0.040 | 4 | 46238270 | intergenic variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 21 | 25566677 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
1 | 1.000 | 0.040 | 5 | 3276582 | regulatory region variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.120 | 17 | 2305605 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 32219828 | intron variant | A/G | snv | 0.57 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 16742882 | intergenic variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 15 | 72685861 | 5 prime UTR variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 |