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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 4 | 88965146 | intron variant | C/G;T | snv | 0.710 | 1.000 | 3 | 2010 | 2015 | |||||
|
5 | 0.882 | 0.080 | 6 | 7562999 | intron variant | T/G | snv | 0.46 | 0.710 | 1.000 | 3 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 141084419 | intron variant | C/A | snv | 0.31 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
4 | 1.000 | 0.040 | 15 | 78461760 | intron variant | A/G | snv | 0.29 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.710 | 1.000 | 2 | 1985 | 2015 | ||||
|
2 | 1.000 | 0.040 | 10 | 79945677 | intron variant | C/T | snv | 0.20 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
4 | 1.000 | 0.040 | 15 | 78481929 | intron variant | C/T | snv | 0.51 | 0.710 | 1.000 | 2 | 2014 | 2018 | ||||
|
6 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 15 | 49412544 | intron variant | G/A | snv | 0.26 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 31916265 | intron variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.882 | 0.120 | 14 | 92649065 | intron variant | G/C;T | snv | 0.700 | 1.000 | 4 | 2014 | 2019 | |||||
|
9 | 0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
4 | 1.000 | 0.040 | 3 | 128242335 | intron variant | T/A | snv | 0.89 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
4 | 1.000 | 0.040 | 6 | 142347764 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
3 | 1.000 | 0.040 | 15 | 71320175 | intron variant | T/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
6 | 1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
3 | 1.000 | 0.040 | 2 | 228705203 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 1.000 | 0.040 | 4 | 105215876 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 108945052 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
9 | 1.000 | 0.040 | 4 | 88947927 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
4 | 0.925 | 0.080 | 4 | 88945562 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 15 | 78606590 | intron variant | C/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 18 | 8808466 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
5 | 1.000 | 0.040 | 5 | 148476770 | intron variant | G/A;C | snv | 0.44; 4.1E-06 | 0.700 | 1.000 | 2 | 2017 | 2019 |