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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 | 0.710 | 0.500 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 159973324 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 230242009 | intron variant | C/T | snv | 0.13 | 0.810 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 8 | 78663569 | intron variant | T/C | snv | 0.64 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.080 | 19 | 16437564 | intron variant | A/G | snv | 0.63 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | X | 66021884 | 3 prime UTR variant | G/A | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 9723495 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 16 | 3254380 | missense variant | C/G;T | snv | 6.3E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 13 | 92232844 | intron variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 10293054 | intron variant | T/C | snv | 0.32 | 0.830 | 1.000 | 4 | 2008 | 2011 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 19 | 33259408 | intergenic variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 15626589 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 6 | 32950080 | non coding transcript exon variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 10 | 88263276 | upstream gene variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 4 | 26083889 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 |