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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 9 | 97855197 | 3 prime UTR variant | G/T | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 8 | 132887509 | missense variant | A/G | snv | 8.8E-05 | 3.3E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.807 | 0.120 | 11 | 48125070 | missense variant | G/A | snv | 0.18 | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
8 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 10 | 43100520 | synonymous variant | A/C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 12 | 46775115 | synonymous variant | A/G | snv | 3.1E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 11 | 112164784 | intron variant | A/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.240 | 11 | 14893764 | upstream gene variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 1 | 118422631 | intergenic variant | C/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.742 | 0.120 | 11 | 112086941 | missense variant | G/A | snv | 7.5E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.080 | 11 | 112164002 | 5 prime UTR variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 11 | 112164016 | 5 prime UTR variant | A/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 |