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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 11 | 117661016 | intron variant | C/T | snv | 9.7E-02 | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 11 | 116778419 | 3 prime UTR variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 116755542 | intron variant | G/A | snv | 0.10 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.882 | 0.120 | 2 | 27592643 | intron variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 8 | 125472284 | intron variant | T/G | snv | 0.76 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
8 | 0.882 | 0.120 | 2 | 27629051 | missense variant | G/A | snv | 0.23 | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
9 | 0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 43800798 | downstream gene variant | A/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 218439407 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 26539480 | intron variant | T/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 163324702 | 3 prime UTR variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 116851110 | intron variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 116851325 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 5 | 173965395 | downstream gene variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 75502331 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 65048915 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 8 | 71495139 | intron variant | G/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1 | 172377408 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 16597467 | intron variant | G/A | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 9 | 134415237 | intron variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 134407131 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |