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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.200 | 7 | 100641071 | missense variant | G/A;C | snv | 4.2E-06; 8.3E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.200 | 3 | 10222796 | missense variant | C/G | snv | 0.37 | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.280 | 5 | 102477801 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
2 | 0.925 | 0.120 | 3 | 10290784 | 5 prime UTR variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 12 | 104028030 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.763 | 0.360 | 6 | 106971734 | missense variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 3 | 107912675 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 109456395 | TF binding site variant | C/T | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
7 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
8 | 0.776 | 0.360 | 1 | 11046609 | missense variant | T/C | snv | 2.1E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
8 | 0.827 | 0.200 | 19 | 11113589 | synonymous variant | A/G | snv | 0.63 | 0.66 | 0.020 | 1.000 | 2 | 2009 | 2015 | |||
|
4 | 0.925 | 0.160 | 19 | 11116886 | missense variant | T/C | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
7 | 0.851 | 0.200 | 19 | 11120205 | synonymous variant | T/C | snv | 0.42 | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 19 | 11127563 | non coding transcript exon variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 | 0.030 | 1.000 | 3 | 2011 | 2013 | |||
|
3 | 0.882 | 0.160 | 19 | 11131982 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 111995520 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2009 | 2019 |