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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 0.820 | 1.000 | 4 | 2009 | 2019 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.810 | 1.000 | 5 | 2009 | 2019 | ||||
|
9 | 0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 | 0.810 | 1.000 | 5 | 2009 | 2019 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 50498129 | intron variant | T/C | snv | 0.30 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
11 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2013 | 2015 | |||||
|
10 | 0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||
|
2 | 0.925 | 0.200 | 6 | 140848688 | intron variant | A/G | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 39805581 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 3 | 189683987 | intron variant | G/C | snv | 9.7E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 11 | 56408195 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 15 | 92114143 | intron variant | T/A;C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.200 | 12 | 116564853 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 19 | 44007237 | intron variant | G/T | snv | 0.62 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 11 | 48093537 | intron variant | C/T | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 14 | 23116124 | downstream gene variant | C/T | snv | 0.68 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 7 | 50405553 | downstream gene variant | A/G | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 50936813 | intron variant | T/C | snv | 2.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 14 | 76237008 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 61964631 | intron variant | A/G | snv | 0.74 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 47121125 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 3 | 47123960 | missense variant | G/A;C | snv | 5.0E-05; 1.3E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 50414314 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 50497706 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 |