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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 7 | 145416641 | intergenic variant | G/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 47320137 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 6 | 6016936 | intergenic variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 5 | 104734216 | intron variant | A/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
5 | 0.925 | 0.120 | 8 | 27595330 | downstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 17 | 45829462 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.925 | 0.040 | 17 | 45830379 | non coding transcript exon variant | C/G;T | snv | 4.4E-06; 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.827 | 0.120 | 7 | 87544351 | intron variant | A/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 6 | 151875817 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
13 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.120 | 17 | 82084916 | missense variant | C/T | snv | 4.1E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
17 | 0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2008 | 2019 | |||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.882 | 0.040 | 3 | 52821213 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 |