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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 | 0.730 | 1.000 | 4 | 2013 | 2016 | ||||
|
10 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 0.720 | 1.000 | 3 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.080 | 6 | 33121846 | intron variant | C/A;G | snv | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
21 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 0.030 | 1.000 | 3 | 2015 | 2017 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.030 | 1.000 | 3 | 2015 | 2017 | |||
|
3 | 0.882 | 0.080 | 6 | 32633026 | intron variant | T/C | snv | 0.49 | 0.720 | 1.000 | 3 | 2013 | 2014 | ||||
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.720 | 1.000 | 3 | 2013 | 2018 | ||||
|
4 | 0.851 | 0.080 | 6 | 33236497 | upstream gene variant | G/A | snv | 0.10 | 0.720 | 1.000 | 3 | 2013 | 2016 | ||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.790 | 0.120 | 6 | 36685820 | 3 prime UTR variant | C/T | snv | 0.15 | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
15 | 0.724 | 0.280 | 6 | 159688224 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.807 | 0.120 | 6 | 52243264 | intron variant | G/A | snv | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 33057663 | TF binding site variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
17 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.742 | 0.320 | 6 | 43771240 | synonymous variant | C/G;T | snv | 8.5E-06; 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 |