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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.200 | 18 | 657657 | 5 prime UTR variant | GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG | delins | 0.020 | 0.500 | 2 | 2013 | 2018 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 8 | 112643523 | non coding transcript exon variant | T/C | snv | 0.33 | 0.36 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.160 | 18 | 35344446 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 20 | 4874036 | synonymous variant | A/G | snv | 0.34 | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.120 | 8 | 42316559 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 18 | 673444 | 3 prime UTR variant | AAGTTA/-;AAGTTAAAGTTA | delins | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 3 | 10294607 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.160 | 8 | 128008933 | non coding transcript exon variant | G/A;C | snv | 0.63 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 13 | 41557730 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 7 | 135364052 | missense variant | C/G;T | snv | 0.27 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
11 | 0.752 | 0.360 | 12 | 6342424 | upstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 49673881 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 20 | 4884300 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
34 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 |