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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 6 | 160564494 | intron variant | G/A | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 99418299 | intron variant | G/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 4 | 6429357 | intron variant | T/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.827 | 0.240 | 1 | 11796276 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 10 | 86655778 | intron variant | G/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 8 | 124550784 | intron variant | T/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 78775175 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 116161170 | intron variant | A/C;G | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 9 | 121725216 | intron variant | C/T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 2 | 76861472 | intron variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 11081053 | downstream gene variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.752 | 0.120 | 9 | 22103184 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 20 | 1966633 | intron variant | A/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 117414434 | regulatory region variant | T/C | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 154682843 | intergenic variant | G/T | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 171063141 | 3 prime UTR variant | A/G | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 14429763 | intron variant | A/G | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 78773946 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 36708365 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 16 | 7259990 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |