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 | 0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 | 0.840 | 1.000 | 5 | 2007 | 2015 | ||||
|
5 | 0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 5 | 40386453 | regulatory region variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 | 0.810 | 1.000 | 3 | 2008 | 2014 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.860 | 1.000 | 8 | 2006 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 130768383 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.080 | 5 | 139383837 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 0.070 | 0.857 | 7 | 2011 | 2014 | |||
|
2 | 1.000 | 0.040 | 5 | 56143024 | intron variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 60997124 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 2 | 60990407 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2008 | 2011 | |||||
|
5 | 0.851 | 0.240 | 5 | 132393705 | missense variant | C/T | snv | 4.0E-06 | 0.050 | 0.800 | 5 | 2006 | 2012 | ||||
|
1 | 1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2007 | 2010 | |||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.810 | 1.000 | 2 | 2010 | 2018 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 7 | 28150502 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 | 0.710 | 1.000 | 3 | 2015 | 2017 |