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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | X | 153506051 | missense variant | C/A;T | snv | 0.43 | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.120 | 9 | 134842570 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 6 | 43770736 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 2 | 201287439 | 3 prime UTR variant | T/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.120 | 2 | 162183437 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 9 | 134842386 | 3 prime UTR variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 15 | 88867083 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.763 | 0.320 | 17 | 50200388 | intron variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 1 | 161305953 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.160 | 10 | 93594018 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.120 | 11 | 102779693 | missense variant | C/G;T | snv | 1.2E-05; 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 9 | 134842493 | 3 prime UTR variant | G/A | snv | 5.5E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 9 | 134843171 | 3 prime UTR variant | -/GGGA | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 18 | 31595130 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.240 | 18 | 31595212 | missense variant | A/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 |